Doença degenerativa hereditária que envolve os nervos periféricos. É causada por mutações nos genes responsáveis pela produção de proteínas necessárias ao funcionamento e estrutura dos nervos periféricos. É caracterizada por atrofia muscular e fraqueza nos pés, pernas, mãos e braços e perda de sensibilidade nos membros.
Introdução
O que você precisa saber de cara
A Doença de Charcot-Marie-Tooth (CMT) é uma condição genética que afeta os nervos periféricos responsáveis pelos movimentos e pela sensibilidade. A pessoa pode notar fraqueza muscular nas pernas e nos pés, perda gradual de força nas mãos e diminuição da sensibilidade. Hoje, a condição não consta na lista oficial de Protocolos Clínicos e Diretrizes Terapêuticas (PCDT) de doenças raras do Ministério da Saúde. O acompanhamento e a reabilitação física são realizados pela rede de serviços de saúde do SUS.
Doença degenerativa hereditária que envolve os nervos periféricos. É causada por mutações nos genes responsáveis pela produção de proteínas necessárias ao funcionamento e estrutura dos nervos periféricos. É caracterizada por atrofia muscular e fraqueza nos pés, pernas, mãos e braços e perda de sensibilidade nos membros.
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1/20kRara
1/10kPouco freq.
1/5kIncomum
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 196 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 423 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
54 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, X-linked dominant, X-linked recessive.
Curadoria gene-doença
fontes oficiaisCharcot-Marie-Tooth disease, recessive intermediate B
A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1
An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance.
Charcot-Marie-Tooth disease, axonal, type 2T
An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
Charcot-Marie-Tooth disease, X-linked dominant, 6
A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy.
Neuronopathy, distal hereditary motor, autosomal recessive 5
A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. HMNR5 is characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes.
Charcot-Marie-Tooth disease, axonal, type 2R
An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
Charcot-Marie-Tooth disease, demyelinating, type 1G
An autosomal dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1G is characterized by distal muscle weakness and atrophy with onset in the first or second decade.
Charcot-Marie-Tooth disease, axonal, type 2Z
An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
Spastic paraplegia 11, autosomal recessive
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
Myopathy, centronuclear, 1
A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers.
Spastic paraplegia 10, autosomal dominant
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
Usher syndrome 3B
A syndrome characterized by progressive vision and hearing loss during early childhood. Some patients have the so-called 'Charles Bonnet syndrome,' involving decreased visual acuity and vivid visual hallucinations. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH3 is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life.
Charcot-Marie-Tooth disease, axonal, type 2N
An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
Microcephaly, seizures, and developmental delay
An autosomal recessive neurodevelopmental disorder characterized by infantile-onset seizures, microcephaly, severe intellectual disability and delayed motor milestones with absent speech or only achieving a few words. Most patients also have behavioral problems with hyperactivity. Microcephaly is progressive and without neuronal migration or structural abnormalities, consistent with primary microcephaly.
Charcot-Marie-Tooth disease, demyelinating, type 1J
An autosomal dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet.
Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
An autosomal recessive neurodegenerative disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism.
Brachyolmia 3
A form of brachyolmia, a clinically and genetically heterogeneous skeletal dysplasia primarily affecting the spine and characterized by a short trunk, short stature, and platyspondyly. BCYM3 is an autosomal dominant form with severe scoliosis with or without kyphosis, and flattened irregular cervical vertebrae.
Mitochondrial complex IV deficiency, nuclear type 1
An autosomal recessive disorder of the mitochondrial respiratory chain characterized by early-onset, rapidly progressive encephalopathy, neurodegeneration, and loss of motor and cognitive skills. Affected individuals show hypotonia, failure to thrive, loss of the ability to sit or walk, poor communication, poor eye contact, oculomotor abnormalities, as well as deafness, ataxia, tremor, and brisk tendon reflexes. Brain imaging shows bilateral symmetric lesions in the basal ganglia. Lactate levels in serum and cerebrospinal fluid are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. Death in childhood may occur, often due to central respiratory failure.
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.
Mitochondrial DNA depletion syndrome 6
A disease due to mitochondrial dysfunction. It is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, peripheral neuropathy, corneal scarring, acral ulceration and osteomyelitis leading to autoamputation, cerebral leukoencephalopathy, failure to thrive, and recurrent metabolic acidosis with intercurrent infections.
Charcot-Marie-Tooth disease, demyelinating, type 4B1
A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.
Charcot-Marie-Tooth disease, axonal, type 2A1
A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
Charcot-Marie-Tooth disease, recessive intermediate D
A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.
Charcot-Marie-Tooth disease, demyelinating, type 1H
An autosomal dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1H is characterized by peripheral sensorimotor neuropathy with onset usually in adulthood. Affected individuals present with foot deformities, upper or lower limb sensory disturbances, and motor deficits, mainly impaired gait. Rare patients may have hyperelastic skin or develop age-related macular degeneration.
Charcot-Marie-Tooth disease, axonal, type 2GG
An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2GG is an autosomal dominant form characterized by slowly progressive distal muscle weakness and atrophy primarily affecting the lower limbs and causing difficulty walking. Some individuals may also have involvement of the hands.
Charcot-Marie-Tooth disease, axonal, type 2Q
An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
Charcot-Marie-Tooth disease, axonal, type 2DD
A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
Neuronopathy, distal hereditary motor, autosomal dominant 2
A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs.
Alagille syndrome 1
A form of Alagille syndrome, an autosomal dominant multisystem disorder. It is clinically defined by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems.
Charcot-Marie-Tooth disease, axonal, type 2A2B
An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2A2B is a severe form with autosomal recessive inheritance.
Giant axonal neuropathy 2, autosomal dominant
An autosomal dominant peripheral axonal neuropathy characterized by onset of distal sensory impairment with lower extremity muscle weakness and atrophy after the second decade. Clinical features include foot deformities apparent in childhood, and cardiomyopathy in severely affected individuals. Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation.
Charcot-Marie-Tooth disease, demyelinating, type 4H
A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.
Dejerine-Sottas syndrome
A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome.
Neuronopathy, distal hereditary motor, autosomal recessive 4
A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. HMNR4 is characterized by childhood onset, generalized muscle weakness and atrophy with denervation and normal sensation. Bulbar symptoms and pyramidal signs are absent.
Interstitial lung and liver disease
An autosomal recessive, life-threatening disorder characterized by respiratory insufficiency and progressive liver disease with onset in infancy or early childhood. Clinical features include failure to thrive, hypotonia, intermittent lactic acidosis, aminoaciduria, hypothyroidism, interstitial lung disease, pulmonary alveolar proteinosis, anemia, and liver canalicular cholestasis, steatosis, and iron deposition.
Charcot-Marie-Tooth disease, axonal, type 2O
An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
Agenesis of the corpus callosum, with peripheral neuropathy
A disease that is characterized by severe progressive sensorimotor neuropathy, intellectual disability, dysmorphic features and complete or partial agenesis of the corpus callosum.
Charcot-Marie-Tooth disease, demyelinating, type 4A
A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4A is a severe form characterized by early age of onset and rapid progression leading to inability to walk in late childhood or adolescence.
Charcot-Marie-Tooth disease, axonal, type 2D
A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
Charcot-Marie-Tooth disease, demyelinating, type 1B
A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet.
Charcot-Marie-Tooth disease, dominant intermediate C
A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type C is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.
Charcot-Marie-Tooth disease, axonal, type 2F
A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Onset of Charcot-Marie-Tooth disease type 2F is between 15 and 25 years with muscle weakness and atrophy usually beginning in feet and legs (peroneal distribution). Upper limb involvement occurs later.
Combined oxidative phosphorylation deficiency 6
A mitochondrial disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting. Some patients manifest prenatal ventriculomegaly and severe postnatal encephalomyopathy.
Charcot-Marie-Tooth disease, demyelinating, type 4D
A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.
Charcot-Marie-Tooth disease, demyelinating, type 1F
A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1F is characterized by onset in infancy or childhood (range 1 to 13 years).
Charcot-Marie-Tooth disease, dominant intermediate F
A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. CMTDIF is characterized by onset around adolescence of slowly progressive distal muscle atrophy and weakness affecting the upper and lower limbs and resulting in steppage gait. There is distal sensory impairment with decreased reflexes. Nerve conduction velocities are variable, ranging from the demyelinating to the axonal range.
Focal segmental glomerulosclerosis 5
A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation.
Neuronopathy, distal hereditary motor, autosomal recessive 1
A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs.
Amyotrophic lateral sclerosis
A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
Neuropathy, congenital hypomyelinating, 1, autosomal recessive
A severe degenerating neuropathy that results from a congenital impairment in myelin formation. It is clinically characterized by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (as low as 3m/s). Some patients manifest nearly complete absence of spontaneous limb movements, respiratory distress at birth, and complete absence of myelin shown by electron microscopy of peripheral nerves.
Medicamentos e terapias
Mecanismo: Opioid receptors; mu/kappa/delta antagonist
Mecanismo: Opioid receptors; mu/kappa/delta antagonist
Mecanismo: GABA-B receptor agonist
Mecanismo: Progesterone receptor modulator
Mecanismo: Sodium channel alpha subunit blocker
Mecanismo: Aldose reductase inhibitor
Variantes genéticas (ClinVar)
658 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
192 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Doença de Charcot-Marie-Tooth/neuropatia sensitiva e motora hereditária
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Publicações mais relevantes
Gait Parameters Alterations Under Dual-Task Conditions in Patients With Acquired and Hereditary Peripheral Neuropathies.
Peripheral demyelinating neuropathies impair gait and increase fall risk, particularly under cognitively demanding conditions. While gait disturbances in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and Charcot-Marie-Tooth disease type 1A (CMT1A) are well documented, their differential responses to cognitive dual-tasking remain poorly understood. In this prospective study, 62 patients (31 CIDP, 31 CMT1A) performed 10-m barefoot walking trials under three conditions: natural walking, low dual-task (answering factual questions), and high dual-task (introspective questions about illness impact). Gait parameters, including speed, stride length, stride time, foot and heel clearance, were measured using a motion capture system. Group, condition, and interaction effects were analyzed using linear mixed-effects models. Both groups showed significant reductions in gait speed and stride length under dual-task conditions. Compared to CMT1A, CIDP patients exhibited more pronounced slowing and increased stride time, especially during high dual-tasking. Heel clearance decreased significantly in CIDP, with a group × condition interaction, while CMT1A patients maintained more stable gait patterns. Foot clearance at peak swing declined in both groups without intergroup differences. These results suggest that CIDP patients adopt a more cautious gait under cognitive load, reflecting reduced automatism and adaptability. In contrast, CMT1A patients appear to benefit from long-term compensatory strategies developed over the disease course. Moreover, the CIDP patients decreased their heel clearance during dual-task, increasing the fall risk. Dual-task gait analysis reveals distinct adaptations in hereditary and acquired neuropathies. Parameters such as heel clearance and stride time may serve as functional markers to guide diagnosis and rehabilitation.
Development and Validation of a Visual Grading Score of Disease Severity From Gait Videos in Genetic Peripheral Neuropathy.
The Clinical Eye Score (CES) is a score to grade disease severity in peripheral neuropathy visually from videos of patients walking. It correlates strongly with state-of-the-art outcome measures for peripheral neuropathy in patients with CMT. Therefore, it may provide a solution for digital or remote follow-up examinations for adult patients with peripheral neuropathies. Monitoring individuals with peripheral neuropathies is challenging due to limited availability and time resources of neurologists, especially for rare genetic forms. This highlights the need for innovative methods to quantify disease severity efficiently and enable telemedical settings. In this study, we explored the feasibility of visual grading of gait disability as a novel approach for remote disease monitoring, using genetic neuropathies (Charcot Marie Tooth Disease, short CMT) as a model. We prospectively evaluated 53 participants with CMT using a battery of clinical examination scores, and patient reported outcome measures (PROMs), as well as semi‐standardized sagittal‐plane videos of participants walking a 4‐m runway for 5 ± 2 min cross‐sectionally, and developed the Visual Gait Assessment Scale in Polyneuropathy (vGASP) to grade the severity of gait abnormality. Three independent raters evaluated the score as easily understandable and quick. The vGASP was internally consistent (inter‐class coefficient of 0.9) and valid when correlating with validated clinical outcome measures (Spearman's ρ = 0.6–0.8). The vGASP may offer a time‐effective solution for remote monitoring of patients in CMT and potentially other gait‐affecting polyneuropathies.
AAVrh74.tMCK.NT-3 Surrogate Gene Therapy in a Mouse Model of CMT2A.
Mutations in the Mitofusin 2 (MFN2) gene cause Charcot-Marie-Tooth type 2A (CMT2A). Neurotrophin 3 (NT-3) is an autocrine factor that supports Schwann cell survival and differentiation, axon regeneration and myelination, neuromuscular junction (NMJ) integrity, and mitochondrial function. In this study, we assessed the efficacy of NT-3 gene therapy using the AAVrh74 serotype in the Mfn2+/- mouse model for CMT2A. Although haploinsufficiency is not reported in CMT2A patients, our model shows some features of CMT2A, including axonal atrophy, muscle atrophy, length-dependent axon loss, and abnormal mitochondria, in muscle in the enzyme histochemistry. Eight-month-old Mfn2+/- mice received a 3 × 1011 vector genome dose of AAVrh74.tMCK.NT-3 intramuscularly, and functional, electrophysiological, and histological outcomes were assessed six months post-treatment. NT-3 gene therapy in Mfn2+/- mice significantly improved grip strength and rotarod performance, and ameliorated electrophysiological abnormalities and NMJ denervation in lumbrical muscles. Additionally, our therapeutic approach improved muscle histopathology with reductions in mitochondrial abnormalities and oxidative stress. NT-3 further remodeled carbohydrate metabolism in muscle. Our study indicated that AAV.NT-3 gene therapy has a disease-modifying effect in the Mfn2+/- model of CMT2A, providing further support for the translational potential of this surrogate gene therapy approach to CMT2A patients.
Muscle-Specific DNM2 Overexpression Improves Charcot-Marie-Tooth Disease In Vivo and Reveals a Narrow Therapeutic Window in Skeletal Muscle.
Charcot-Marie-Tooth disease (CMT), caused by dominant loss-of-function mutations in DNM2, encoding the GTPase dynamin-2, impairs motor and sensory function. However, the respective contributions of muscle and nerve pathology, and the therapeutic potential of increasing DNM2 expression, remain unresolved. We evaluated tissue-targeted and systemic approaches to increase DNM2 in a mouse model carrying the common K562E-CMT mutation. Muscle-specific DNM2 overexpression from embryogenesis in Dnm2K562E/+ mice ameliorated desmin and integrin mislocalization, membrane trafficking defects, mitochondrial abnormalities, and fibrosis in skeletal muscle, resulting in improved locomotor coordination despite persistent muscle atrophy. Conversely, systemic postnatal AAV delivery of human DNM2 increased DNM2 in muscle but failed to transduce nerves and paradoxically worsened the muscle pathology, producing centronuclear myopathy-like features. These findings reveal a primary pathogenic impact of DNM2-CMT mutation within skeletal muscle, independent of nerve involvement. Collectively, they underscore that precise DNM2 dosage is critical for neuromuscular homeostasis and reveal a narrow therapeutic window for safe and effective therapeutic intervention. This paradox, in which efforts to compensate for a loss-of-function neuropathy risk inducing a gain-of-function myopathy, highlights the need for tightly controlled modulation of DNM2 activity in future therapeutic strategies.
Stress-Driven Selective Neuronal Vulnerability in Charcot-Marie-Tooth Disease: From Prodromal Pathology to Therapeutic Implications.
Charcot-Marie-Tooth (CMT) disease represents the most prevalent inherited peripheral neuropathy with a broad range of clinical manifestations, inheritance patterns, and causative genes. The primary pathological hallmark is progressive degeneration, predominantly affecting sensory and motor neurons, leading to prominent sensory deficits and progressive motor impairments. While neuropathy-causing mutations in the ubiquitously expressed small heat shock protein HSPB1 account for a subset of axonal CMT cases, the mechanisms underlying the selective vulnerability of peripheral neurons remain poorly understood. In this review, we synthesize emerging evidence to reframe HSPB1-related CMT as a prototypical gene-environment interaction disorder. The unique anatomical exposure and high metabolic demands of the peripheral nervous system (PNS) render it particularly vulnerable to HSPB1 mutation-mediated homeostatic collapse, which manifests through three interconnected pathological axes: proteostatic disturbance, cytoskeletal dysregulation, and mitochondrial dysfunction. Crucially, these deficits converge to impair the stress adaptability of peripheral neurons, creating a maladaptive feedback loop wherein environmental stressors exacerbate intrinsic vulnerabilities. We further propose a phase-specific therapeutic framework that prioritizes early intervention during the clinically silent yet biologically active prodromal stage, when targeted modulation of the HSPB1 chaperone interactome and remodeling neural homeostasis may forestall neurodegeneration. This therapeutic paradigm shift from symptomatic management to preclinical neuroprotection underscores the imperative for precision medicine approaches in future CMT intervention.
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📚 EuropePMC2 artigos no totalmostrando 199
Gait Parameters Alterations Under Dual-Task Conditions in Patients With Acquired and Hereditary Peripheral Neuropathies.
European journal of neurologyDevelopment and Validation of a Visual Grading Score of Disease Severity From Gait Videos in Genetic Peripheral Neuropathy.
European journal of neurologyBehavioral Thermoceptive Responses and Morphologic Correlates in Mouse Models of CMT1A, HNPP, and Aging.
Journal of the peripheral nervous system : JPNSCranial Nerve Involvement With Diplopia as Presenting Feature of CMT1H Caused by Recurring FBLN5 Variant.
Journal of the peripheral nervous system : JPNSAAVrh74.tMCK.NT-3 Surrogate Gene Therapy in a Mouse Model of CMT2A.
International journal of molecular sciencesABCA1: A Therapeutic Target for Improving Cholesterol Homeostasis in Peripheral Neuropathies.
BiomoleculesUnraveling GDAP1: Bridging Mitochondrial Biology and Peripheral Neuropathy.
BiomoleculesMuscle-Specific DNM2 Overexpression Improves Charcot-Marie-Tooth Disease In Vivo and Reveals a Narrow Therapeutic Window in Skeletal Muscle.
International journal of molecular sciencesStress-Driven Selective Neuronal Vulnerability in Charcot-Marie-Tooth Disease: From Prodromal Pathology to Therapeutic Implications.
CellsPatient-derived neural organoids reveal developmental impairments associated with a novel GJB1 mutation in X-linked Charcot-Marie-Tooth disease.
Neurobiology of diseaseGenetic commonalities between rare subtypes of ALS and CMT: insights into molecular mechanisms of neurodegeneration.
Amino acidsHereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.
GenesWhite Matter Microstructural Correlates of Auditory Brainstem Responses in Patients With Charcot-Marie-Tooth Disease.
Brain and behaviorTFG p.G269V Mutation Disrupts Motor Neuron Function in iPSC-Derived Models via Wnt Signaling Dysregulation.
Journal of neurochemistryCharcot-Marie-Tooth disease and related neuropathies.
Nature reviews. Disease primersNovel Biallelic PLEKHG5 Variant Associated With Intermediate Charcot-Marie-Tooth Disease: Case Report From South America.
Journal of the peripheral nervous system : JPNSEvaluating Cochlear Implantation Outcomes in Charcot-Marie-Tooth Disease: A Case Series Analysis of Genetic Profiles and Intervention Timing.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyBroadening the Clinical Spectrum of Axonal Hereditary Neuropathies: A Comparative Case Study on DNAJB2- and HINT1-Related Disease.
Journal of the peripheral nervous system : JPNSImpaired PARP1-dependent DNA repair in MORC2 mutations drives axonal degeneration in Charcot-Marie-Tooth disease subtype 2Z and spinal muscular atrophy-like neuromotor disorders.
Pharmacological researchClinical and molecular spectrum of an Iranian Charcot-Marie-Tooth 2T cohort, and the diagnostic importance of whole exome sequencing in identifying co-occurrence inherited disorders.
Neuromuscular disorders : NMDMetabolic signatures in sciatic nerve of PMP22 transgenic rats provide insights into the pathogenesis of charcot-marie-tooth disease type 1 A.
Scientific reports[Genetic variant analysis in patients with autosomal recessive demyelinating Charcot-Marie-Tooth disease].
Zhonghua nei ke za zhiSpectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants.
Journal of neurology, neurosurgery, and psychiatryAberrant Complement Activation Is a Prominent Feature of Chronic Inflammatory Demyelinating Polyneuropathy.
Neurology(R) neuroimmunology & neuroinflammationAAV9 gene therapy optimization for SMARD1/CMT2S: safety and long-term efficacy comparison of two vectors in a SMARD1 preclinical model.
Journal of biomedical sciencePhenotypic continuum in IGHMBP2-related disorders: a portfolio of cases from typical to Guillain-Barré syndrome-like presentation.
Neuromuscular disorders : NMDAberrant Molecular Myelin Architecture in Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy With Liability to Pressure Palsies.
Glia[A case of neuronal intranuclear inclusion disease presenting with leukoencephalopathy after the diagnosis of Charcot-Marie-Tooth disease type 4C].
Rinsho shinkeigaku = Clinical neurologyNovel Dominant Splicing Variant in MPZ Associated With Unusual Charcot-Marie-Tooth Disease.
Journal of the peripheral nervous system : JPNSRelationships of GDAP1 Mutations to Disease Phenotype and Mechanisms of Therapeutic Action of Oxidative Metabolism Activators in a Patient with Charcot-Marie-Tooth Neuropathy Type 2K.
Biochemistry. BiokhimiiaLipid dependence of connexin-32 gap junction channel conformations.
Nature communicationsAbnormal fat distribution in two patients with RAB7A-associated Charcot-Marie-Tooth type 2B: a case report.
BMC neurologyPMP22-Related Neuropathies: A Systematic Review.
GenesGenetic profile of Charcot-Marie-Tooth disease in the Saudi population: A retrospective study highlighting the role of consanguinity.
Neurosciences (Riyadh, Saudi Arabia)Drug repurposing screen identifies an HRI activating compound that promotes adaptive mitochondrial remodeling in MFN2-deficient cells.
Proceedings of the National Academy of Sciences of the United States of AmericaThe Ighmbp2-R604X mouse presents with the most severe SMARD1 clinical symptoms resulting in failure to thrive, respiratory and feeding deficits, aspiration and severe axon and muscle pathology.
Neurobiology of diseaseHaplotype editing with CRISPR-Cas9 as a therapeutic approach for dominant-negative missense mutations in NEFL.
Molecular therapy : the journal of the American Society of Gene TherapyFrequent De Novo Mutations in Korean Patients With Charcot-Marie-Tooth Disease.
Journal of the peripheral nervous system : JPNSPeripheral Neuropathy: A Review.
JAMAValidation and Reliability of the Thai Pediatric Charcot-Marie-Tooth Quality of Life Outcome Measure.
Journal of the peripheral nervous system : JPNSAdvances and challenges in modeling Charcot-Marie-Tooth type 2A using iPSC-derived models.
Stem cell reports[Charcot-Marie-Tooth Disease: Historical Evolution and Present Understanding].
Brain and nerve = Shinkei kenkyu no shinpoUnraveling the Overlapping Spectrum of Hereditary Neuropathies: Clinical and Genetic Insights From the UAE.
CureusPhenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism.
European journal of medical geneticsEvaluation of normalized T1 signal intensity obtained using an automated segmentation model in lower leg MRI as a potential imaging biomarker in Charcot-Marie-Tooth disease type 1 A.
Scientific reportsNovel GNB4 Gene Variant and the Spectrum of GNB4 Variants in Patients With Charcot-Marie-Tooth Disease.
Neurology. GeneticsInherited Peripheral Neuropathies.
Neurologic clinicsCharcot-Marie-Tooth Disease With Severe Hand Contractures and Respiratory Failure Requiring Long-Term Ventilator Support: A Case Report.
CureusIs gaitrite system sensitive in discriminating gait pattern of subjects affected by Charcot Marie tooth? A pilot study.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyA systematic review of CRISPR applications in demyelinating peripheral nervous system disorders.
Regenerative medicineMultidimensional evaluation of clinical and functional impairment in a large population of patients with Charcot-Marie-Tooth.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyStatistical Shape Modeling Characterization of Cavovarus Deformity Between Demyelinating and Axonal Subtypes of Charcot-Marie-Tooth Disease.
Foot & ankle internationalBiallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.
The Journal of clinical investigationComparison of the presentation and electrophysiological characteristics of autoimmune nodopathies in patients with antibody-negative CIDP and CMT1.
Frontiers in neurologyA novel homozygous COX6A1 variant causes axonal charcot-marie-tooth disease, developmental delays and mitochondrial dysfunction.
Journal of human geneticsThe Easy Handgrip Test as a Tool for Assessing Motor Fatigability in Children With Charcot-Marie-Tooth Disease Type 1A.
Journal of the peripheral nervous system : JPNSSurgical correction of foot deformities in Charcot-Marie-Tooth-disease: effects on personal goals and gait capacity.
Neuromuscular disorders : NMDNationwide Characterization of MFN2-Related CMT in 176 Japanese Patients: Clinical and Genetic Insights.
Annals of clinical and translational neurology[A case of X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) diagnosed based on recurrent brain lesions despite peripheral neuropathy responsive to immunotherapy].
Rinsho shinkeigaku = Clinical neurologyOcular Surface Changes Associated with Neurological Diseases.
Medicina (Kaunas, Lithuania)Selective mitophagy activation and protein aggregate accumulation in MTMR5/SBF1-deficient fibroblasts.
Life sciencesCharcot-Marie-Tooth type 2A variants of mitofusin 2 sensitize cells to apoptotic cell death.
Journal of cell scienceAdvances and Clues of Nutritional Adjuvant Therapy for Charcot-Marie-Tooth Disease.
The Journal of nutritionINF2-Related Charcot-Marie-Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights.
Annals of clinical and translational neurologyDesigning and Implementing a Web-Based Platform for Accurate and Reliable Clinical Outcome Measures and Global Certification for Evaluating Charcot-Marie-Tooth disease.
Journal of the peripheral nervous system : JPNSElectrophysiological findings in SH3TC2 neuropathy mimicking inflammatory neuropathies.
Journal of neurology, neurosurgery, and psychiatryElastin Microfibril Interface-Located Protein 1 (EMILIN1) Mutation Mimicking Axonal Hereditary Motor Sensory Neuropathy.
CureusA Family With X-Linked Charcot-Marie-Tooth Disease Type 1: A Case for Reclassifying a Variant of Uncertain Significance in GJB1and Review of the Literature.
Journal of clinical neuromuscular diseaseAnaesthetic management using remimazolam in a patient with Charcot-Marie-Tooth disease complicated by sarcoidosis.
BMJ case reportsGeneration and characterization of a patient-derived iPSC line, CSSi022-A (15666), with a pathogenic MFN2 mutation causing Charcot-Marie-Tooth disease type 2A.
Stem cell researchGenotypic and Phenotypic Characterization of Axonal Charcot-Marie-Tooth Disease in Childhood: Identification of One Novel and Four Known Mutations.
GenesTwo Cases of Charcot-Marie-Tooth Disease Diagnosed in a 53-Year-Old Mother and a 24-Year-Old Daughter.
The American journal of case reportsTargeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders.
HGG advancesThe current status of Charcot-Marie-Tooth disease type 1 A treatment.
Acta neurologica BelgicaLongitudinal assessment of natural disease progression in Brazilian children and adolescents with Charcot-Marie-Tooth disease.
Arquivos de neuro-psiquiatriaSARM1 Inhibition in Three Mouse Models of Charcot-Marie-Tooth Disease.
Journal of the peripheral nervous system : JPNSBiallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.
Brain : a journal of neurologyUntargeted lipidomic deep-profiling of human plasma via high-performance aza-Prilezhaev aziridination-LC-MS: Unraveling CC isomeric signatures of Charcot-Marie-Tooth disease.
Analytica chimica actaFunctional reorganization of the visual cortex in patients with Charcot-Marie-Tooth disease: A multimodal neuroimaging study.
Brain research bulletinBiallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease.
Annals of neurologyGenetic Deletion of Sarm1 in Mouse Models of Three Neurological Diseases.
Journal of the peripheral nervous system : JPNSMitochondrial Trifunctional Protein Deficiency due to HADHA Variants Masquerading as Charcot-Marie-Tooth Disease.
Journal of the peripheral nervous system : JPNSCirculating mitochondrial components and metabolic and inflammatory markers in Charcot-Marie-Tooth type 2B.
Neurobiology of diseaseEstradiol rescues male hydroxyl radical-mediated Charcot-Marie-Tooth 2Z by Morc2a stabilization through autophagy inhibition in a murine model.
Acta neuropathologicaMacrophage Targeting Protects Nerve Structure and Improves Muscle Innervation in a Mouse Model of Charcot-Marie-Tooth 2J.
GliaNationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral Neuropathy.
European journal of neurologyMetabolic Syndrome in Ambulatory People With Post-Polio Syndrome, Charcot-Marie-Tooth Disease, and Other Neuromuscular Diseases.
American journal of physical medicine & rehabilitationPlantar Pressure Distribution in Charcot-Marie-Tooth Disease: A Systematic Review.
Sensors (Basel, Switzerland)Physical Therapy Interventions for Gait and Balance in Charcot-Marie-Tooth Disease: A Scoping Review.
Life (Basel, Switzerland)Further delineation of LRSAM1-related Charcot-Marie-Tooth type 2P with parkinsonism.
European journal of medical geneticsGDAP1-Related Charcot-Marie-Tooth Disease: Axonal or Demyelinating Subtype? Autosomal Recessive or Autosomal Dominant Inheritance?
Journal of the peripheral nervous system : JPNSCharcot-Marie-Tooth-like presentation in giant axonal neuropathy: clinical variability and prevalence in a large Japanese case series.
Journal of neurologyAcute adrenal insufficiency-induced hypotension following spinal surgery in a pediatric patient with Charcot-Marie-Tooth disease and severe scoliosis: a case report.
BMC pediatricsClinical Characteristics of Gait Disturbance in Charcot-Marie-Tooth Disease and Future Directions in Physical Therapy.
CureusNovel neurofilament light (Nefl) E397K mouse models of Charcot-Marie-tooth type 2E (CMT2E) present early and chronic axonal neuropathy.
Human molecular geneticsIncreased BNIP3-mediated mitophagy attenuates GDAP1 loss of function - implications for Charcot-Marie-Tooth disease 4A.
Neurobiology of diseaseDigenesis in Charcot-Marie-Tooth Disease: Impact of Combined Mutations in the MFN2 and GDAP1 Genes.
Journal of the peripheral nervous system : JPNSPlasma periaxin is a biomarker of peripheral nerve demyelination.
Brain : a journal of neurologyNew variants and genotype-phenotype correlation in KIF5A mutation: the contribution of a large Italian cohort.
Journal of medical geneticsIntrafamilial Phenotypic Variation in Taiwanese Patients with Hereditary Spastic Paraplegia and Charcot-Marie-Tooth Disease Due to KIF5A Mutations: A Cross-Sectional Observational Study.
Acta neurologica TaiwanicaNerve Diameter and DTI Parameters Maybe Potential Markers for Clinical Trial in Patients With Charcot-Marie-Tooth Disease Type 1A.
European journal of neurologyDisease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe.
Brain : a journal of neurologyCharcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants.
Brain : a journal of neurology[Phenotypic heterogeneity of Charcot-Marie-Tooth type 2A disease associated with the c.1091G>C missense mutation (p.Arg364Pro) in the MFN2 gene].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaSonographic Muscle Thickness Assessment Correlates With Disease Burden and Progression in Charcot-Marie-Tooth 1A Disease.
Journal of clinical neurophysiology : official publication of the American Electroencephalographic SocietyThe NeflE397K mouse model demonstrates muscle pathology and motor function deficits consistent with CMT2E.
Human molecular geneticsCombining dynamin 2 myopathy and neuropathy mutations rescues both phenotypes.
Nature communicationsFeasibility, Validity, and Reliability of the Virtual CMT Infant Toddler Scale (vCMTInfS): A Remote Evaluation of Infants/Toddlers With CMT.
Journal of the peripheral nervous system : JPNSFirst Iranian Family with a Novel Missense Variant in MYO9B Gene Causing Charcot-Marie-Tooth Disease.
Archives of Iranian medicineClinical and Genetic Landscape of IGHMBP2 -Related Disorders: From Novel Variants to Phenotypic Insights.
American journal of medical genetics. Part ASplit Hand Syndrome in Charcot-Marie-Tooth Disease Type X1 (CMTX1): A Clinical, Neurophysiological, and Radiological Study.
European journal of neurologyVideo head impulse test findings in patients with peripheral myelin protein 22 related neuropathies.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyRare Variants Cause Charcot-Marie-Tooth Disease in Malian Families.
Brain and behaviorA Novel Mutation in CNTNAP1 Gene Causes Disorganization of Axonal Domains, Hypomyelination and Severe Neurological Deficits.
Journal of neuroscience researchGenetic and clinical spectrum of early growth response 2-related Charcot-Marie-Tooth disease in a Brazilian cohort.
Arquivos de neuro-psiquiatriaDe novo somatic mosaicisms of INF2 and TRPV4 in patients with Charcot-Marie-Tooth disease.
Genes & genomicsThe Spectrum of Small Heat Shock Protein B8 (HSPB8)-Associated Neuromuscular Disorders.
International journal of molecular sciencesTherapeutic sphingosine-1-phosphate receptor modulation by repurposing fingolimod (FTY720) leads to mitigated neuropathy and improved clinical outcome in a mouse model for Charcot-Marie-Tooth 1X disease.
Neuromuscular disorders : NMDDeveloping a gene therapy for Charcot-Marie-Tooth disease: progress and challenges.
Regenerative medicineReduced elbow muscle strength in children and adolescents with Charcot-Marie-Tooth disease: a case control study.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyA cross-sectional survey on the health status of patients with Charcot-Marie-Tooth disease in a Chinese national patient group.
Journal of neurologyp.M918W, a novel RET germline variant: a case report and literature review of the possible association of multiple endocrine neoplasia type 2B and Charcot-Marie-Tooth disease.
Endocrine journalYeast models for Charcot-Marie-Tooth disease-causing aminoacyl-tRNA synthetase alleles reveal the cellular basis of disease.
IUBMB lifeAdvances in modeling the Charcot-Marie-Tooth disease: Human induced pluripotent stem cell-derived Schwann cells harboring SH3TC2 variants.
European journal of cell biologyThe Balance of MFN2 and OPA1 in Mitochondrial Dynamics, Cellular Homeostasis, and Disease.
BiomoleculesRepeated clear benefits of immunotherapy in a patient with Charcot-Marie-Tooth disease carrying a rare point mutation in PMP22.
NeurogeneticsA cellular assay to determine the fusion capacity of MFN2 variants linked to Charcot-Marie-Tooth disease of type 2 A.
Scientific reportsGuillain-Barré syndrome in patients with Charcot-Marie-Tooth type 1A disease, probably a non-random association.
Neurophysiologie clinique = Clinical neurophysiologyA dose escalation and safety study of AAVrh10-mediated Schwann cell-targeted gene therapy for CMT1X.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeuticsBIN1 reduction ameliorates DNM2-related Charcot-Marie-Tooth neuropathy.
Proceedings of the National Academy of Sciences of the United States of AmericaOutcomes of Triceps Surae Lengthening Surgery in Children With Charcot-Marie-Tooth Disease: A Multisite Investigation.
Journal of pediatric orthopedicsA case report of a MODY6 patient coexistence with Charcot-Marie-Toothe 1A syndrome.
Frontiers in endocrinologyCharcot-Marie-Tooth disease: a review of clinical developments and its management - What's new in 2025?
Expert review of neurotherapeuticsGeneration of two induced pluripotent stem cell lines from Charcot-Marie-Tooth type 1B patients harboring autosomal dominant mutations in myelin protein zero gene.
Stem cell researchActivation of XBP1s attenuates disease severity in models of proteotoxic Charcot-Marie-Tooth type 1B.
Brain : a journal of neurologyGenetic landscape of Charcot-Marie-Tooth disease in Vietnam: A prospective multicenter study.
Journal of neuromuscular diseasesRNA Interference Targeting Small Heat Shock Protein B8 Failed to Improve Distal Hereditary Motor Neuropathy in the Mouse Model.
The journal of gene medicineUnraveling the Genetic Landscape of Foot Arch Morphology: A Systematic Review of Single Nucleotide Polymorphisms.
Clinical geneticsTwo novel SH3TC2 mutations predispose to Charcot-Marie-Tooth disease type 4C by mistargeting away from TFRC.
Cellular signallingTwelve-month change in quantitative MRI calf muscle fat fraction in CMT1A predicts clinical change over 4 years.
Annals of clinical and translational neurology[Analysis of clinical and novel gene mutations with X-linked Charcot-marie-tooth disease type 1].
Zhonghua yi xue za zhiDisease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13.
European journal of neurologyAddressing myelination disorders: Novel strategies using human 3D peripheral nerve model.
Brain research bulletinGenotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.
Brain : a journal of neurologyTalar Morphology of Charcot-Marie-Tooth Patients With Cavovarus Feet.
Foot & ankle internationalCharcot Marie Tooth disease pathology is associated with mitochondrial dysfunction and lower glutathione production.
Cellular and molecular life sciences : CMLSFirst Case of Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation Harboring Co-inherited Variants in HERC1 and PMP22 Genes from Iran: Two Novel Variants.
Archives of Iranian medicineHip Dysplasia in Charcot-Marie-Tooth Disease: Insights From a Large Cohort of Children and Adolescents.
Journal of the peripheral nervous system : JPNSTherapeutic potential of siRNA PMP22-SQ nanoparticles for Charcot-Marie-Tooth 1A neuropathy in rodents and non-human primates.
International journal of pharmaceuticsPhosphodiesterase 4D inhibition improves the functional and molecular outcome in a mouse and human model of Charcot Marie Tooth disease 1 A.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieIP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfecta.
PLoS geneticsA Role of Inflammation in Charcot-Marie-Tooth Disorders-In a Perspective of Treatment?
International journal of molecular sciencesSchwann Cells in Neuromuscular Disorders: A Spotlight on Amyotrophic Lateral Sclerosis.
Cells[Genetic analysis of a Chinese pedigree affected with Charcot-Marie-Tooth type 2A2A due to a missense variant of MFN2 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsSurgical correction of cavus foot may promote quality of life in patients with Charcot-Marie-Tooth disease: A retrospective study.
The Journal of foot and ankle surgery : official publication of the American College of Foot and Ankle SurgeonsDelineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.
European journal of neurologyA Novel GBF1 Variant in a Charcot-Marie-Tooth Type 2: Insights from Familial Analysis.
GenesFoot orthosis design for children with Charcot-Marie-Tooth and impact on gait.
Prosthetics and orthotics internationalCharcot-Marie-Tooth Disease Presenting in the Postpartum Period: A Case Report.
CureusNovel biallelic nonsense mutation in IGHMBP2 gene linked to neuropathy (CMT2S): A comprehensive clinical, genetic and bioinformatic analysis of a Turkish patient with literature review.
Brain & developmentAutophagy induction by piplartine ameliorates axonal degeneration caused by mutant HSPB1 and HSPB8 in Charcot-Marie-Tooth type 2 neuropathies.
AutophagyCMT2 and distal hereditary motor neuropathy associated with VRK1 variants: Case series.
Neuromuscular disorders : NMDNeuromuscular transmission deficits in patients with CMT and ClC-1 inhibition in CMT animal models.
Annals of clinical and translational neurologyElectrical impedance myography detects progressive pathological alterations in the hindlimb muscle of the PMP22-C3 mice, an animal model of CMT1A.
Experimental neurologyA fully human IgG1 antibody targeting connexin 32 extracellular domain blocks CMTX1 hemichannel dysfunction in an in vitro model.
Cell communication and signaling : CCSNeurogenic disease with high CK: think muscle.
Practical neurologyHow hidden is hidden hearing loss? Self-reported listening problems in charcot Marie tooth disease.
Journal of communication disordersFunctional ultrasound and brain connectivity reveal central nervous system compromise in Trembler-J mice model of Charcot-Marie-Tooth disease.
Scientific reportsA Review of Muscle Relaxants in Anesthesia in Patients with Neuromuscular Disorders Including Guillain-Barré Syndrome, Myasthenia Gravis, Duchenne Muscular Dystrophy, Charcot-Marie-Tooth Disease, and Inflammatory Myopathies.
Medical science monitor : international medical journal of experimental and clinical researchCo-occurrence of Charcot-Marie-Tooth disease type 1 and glomerulosclerosis in a patient with a de novo INF2 variant.
BMC nephrologyGenetically confirmed Charcot-Marie-Tooth disease type 2A manifesting with postural tremor: a case report.
Journal of medical case reportsA familial form of Charcot-Marie-Tooth disease (type 2d) caused by a previously unreported variant in GARS1.
Journal of neurogeneticsSmall Complex Rearrangement in HINT1-Related Axonal Neuropathy.
GenesHereditary Neuromuscular Disorders in Reproductive Medicine.
GenesRegulation of formin INF2 and its alteration in INF2-linked inherited disorders.
Cellular and molecular life sciences : CMLSClinical Outcome Assessments and Biomarkers in Charcot-Marie-Tooth Disease.
NeurologyPhenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort study.
European journal of neurologySynergistic effect of Wharton's jelly-derived mesenchymal stem cells and insulin on Schwann cell proliferation in Charcot-Marie-Tooth disease type 1A treatment.
Neurobiology of diseaseINF2 mutations cause kidney disease through a gain-of-function mechanism.
Science advancesMiddle ear cholesteatoma and facial nerve hypertrophy mimicking schwannoma in Charcot-Marie-Tooth disease: A case report.
MedicineTransfer RNA supplementation rescues HARS deficiency in a humanized yeast model of Charcot-Marie-Tooth disease.
Nucleic acids researchPhysical exercise halts further functional decline in an animal model for Charcot-Marie-Tooth disease 1X at an advanced disease stage.
Journal of the peripheral nervous system : JPNSAminoacyl-tRNA synthetase defects in neurological diseases.
IUBMB lifePostural balance and visual dependence in patients with demyelinating neuropathies differ between acquired and hereditary etiologies.
Revue neurologiqueIghmbp2 mutations and disease pathology: Defining differences that differentiate SMARD1 and CMT2S.
Experimental neurologyEstablishment of a human induced pluripotent stem cell (iPSC) line (JUCTCi018-A) from a patient with Charcot-Marie-Tooth disease type 2EE (CMT2EE) due to a homozygous c.122G > A p.(Arg41Gln) mutation in the MPV17 gene.
Stem cell researchEstablishment and characterization of three human pluripotent stem cell lines from Charcot-Marie-Tooth disease Type 4B3 patients bearing mutations in MTMR5/Sbf1 gene.
Stem cell researchFIG4-Related Parkinsonism and the Particularities of the I41T Mutation: A Review of the Literature.
GenesMonitoring Myelin Lipid Composition and the Structure of Myelinated Fibers Reveals a Maturation Delay in CMT1A.
International journal of molecular sciencesEvaluation of the Role of Tanshinone I in an In Vitro System of Charcot-Marie-Tooth Disease Type 2N.
International journal of molecular sciencesComparison of Manual vs Artificial Intelligence-Based Muscle MRI Segmentation for Evaluating Disease Progression in Patients With CMT1A.
NeurologyNovel Missense Mutation in GJB1 Gene Leading to X-linked Charcot-Marie-Tooth Disease in Young Male: A Case Report.
Neurology India3D-printed custom ankle braces for people with Charcot-Marie-Tooth disease: A pilot study.
Journal of foot and ankle researchTop 10 Clinical Pearls in Inherited Neuropathies.
Seminars in neurologyPharmacologically increasing cGMP improves proteostasis and reduces neuropathy in mouse models of CMT1.
Cellular and molecular life sciences : CMLSTranslating a Clinical Practice Guideline to a Portuguese, Spanish and English Practice Brief to promote exercise therapy for paediatric Charcot-Marie-Tooth disease.
PhysiotherapyEffect of Pathogenic Mutations on the Formation of High-Order Dynamin 2 Assemblies in Living Cells.
BiochemistryPatient-reported disease burden in the Accelerate Clinical Trials in Charcot-Marie-Tooth Disease Study.
Journal of the peripheral nervous system : JPNSCharacterization of a novel heterozygous variant in the histidyl-tRNA synthetase gene associated with Charcot-Marie-Tooth disease type 2W.
IUBMB lifeAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Doença de Charcot-Marie-Tooth/neuropatia sensitiva e motora hereditária.
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Doença de Charcot-Marie-Tooth/neuropatia sensitiva e motora hereditária e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
É uma doença genética e degenerativa que envolve os nervos periféricos. Ela se caracteriza por atrofia e fraqueza muscular nas extremidades, além de perda de sensibilidade.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
10 publicações do grafo RarasNet (PubMed) · 7 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (s.d.). Doença de Charcot-Marie-Tooth/neuropatia sensitiva e motora hereditária. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/doenca-de-charcot-marie-toothneuropatia-sensitiva-e-motora-hereditaria
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Doença de Charcot-Marie-Tooth/neuropatia sensitiva e motora hereditária
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Moléculas estudadas na doença
- fonte: OpenTargets
- Ensaios clínicos
- fonte: ClinicalTrials.gov
