Doença rara que causa fraqueza e atrofia muscular progressiva, principalmente nos membros distais. Pode apresentar rigidez articular, ataxia, anartria e, em alguns casos, encefalopatia.
Introdução
O que você precisa saber de cara
Visão geral
Sinais e sintomas
O quadro clínico da condição envolve manifestações motoras e neuromusculares, como polineuropatia motora, atrofia muscular espinhal, fraqueza muscular de membro, hipotonia generalizada, rigidez articular, anormalidade da musculatura do pé, pé valgo, camptodactilia do dedo e dificuldade para ficar em pé.[1][2]
Também podem estar presentes alterações como tetraparesia espástica, paraparesia espástica progressiva, ataxia espástica, encefalopatia progressiva, atrofia cerebelar, disartria, anartria, atrofia óptica e hipoplasia do corpo caloso.[1][2]
Outras manifestações descritas compreendem caquexia, déficit de crescimento, atraso de crescimento, dependência de ventilador com incapacidade de desmame, incontinência urinária, constipação e hipoparatireoidismo.[1][2]
Causas genéticas
A neuropatia motora distal hereditária está associada a variantes patogênicas em diversos genes identificados: GARS1 (Glycine--tRNA ligase), TBCE (Tubulin-specific chaperone E), COQ7 (NADPH-dependent 3-demethoxyubiquinone 3-hydroxylase, mitochondrial) e DNAJB2 (DnaJ homolog subfamily B member 2).[1][3]
Outros genes relacionados incluem PLEKHG5, BAG3, SIGMAR1, HSPB3, HSPB8, VRK1, FBXO38 e ATP7A, cada um exercendo papéis em processos moleculares e estruturais das células neuronais.[1][3]
Diagnóstico
Tratamento e manejo
Tratamentos citados na literatura
A literatura científica biomédica catalogada no PubTator3 cita determinadas substâncias em publicações associadas à doença, não constituindo recomendação de tratamento: Sirolimus (5 publicações), Ethanol (3 publicações), Amiodarone (3 publicações), Bevacizumab (3 publicações), Ranibizumab (3 publicações), Vancomycin (3 publicações), Carbon Monoxide (2 publicações), Acetazolamide (2 publicações), Clindamycin (2 publicações) e Gemfibrozil (2 publicações).[4]
Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.
A neuropatia motora distal hereditária é uma condição genética rara que afeta a comunicação motora dos nervos e músculos. Quem convive com ela pode perceber fraqueza nos membros, rigidez nas articulações e dificuldades para se manter em pé ou caminhar. Diversas alterações genéticas em genes como GARS1 ou COQ7 podem estar na origem da condição. No Brasil, a doença não conta com protocolo clínico específico (PCDT) nem remédios fornecidos diretamente pelo SUS para essa finalidade, sendo o suporte focado nas necessidades clínicas gerais.
Doença rara que causa fraqueza e atrofia muscular progressiva, principalmente nos membros distais. Pode apresentar rigidez articular, ataxia, anartria e, em alguns casos, encefalopatia.
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 96 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 228 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
25 genes identificados com associação a esta condição.
Curadoria gene-doença
fontes oficiaisCharcot-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.
Hypoparathyroidism-retardation-dysmorphism syndrome
An autosomal recessive multisystem disorder characterized by hypoparathyroidism, intrauterine and postnatal growth retardation, psychomotor retardation, epilepsy, microcephaly, and facial dysmorphism.
Coenzyme Q10 deficiency, primary, 8
An autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10. Patients manifest neonatal lung hypoplasia, contractures, early infantile hypertension and cardiac hypertrophy, secondary to prenatal kidney dysplasia, with neonatal and infantile renal dysfunction. Clinical features also include progressive peripheral neuropathy, muscular hypotonia and atrophy, and mild psychomotor delay with hearing and visual impairment.
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.
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.
Myopathy, myofibrillar, 6
A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM6 is characterized by early-onset of severe, progressive, diffuse muscle weakness associated with cardiomyopathy, severe respiratory insufficiency during adolescence, and a rigid spine in some patients.
Amyotrophic lateral sclerosis 16, juvenile
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.
Neuronopathy, distal hereditary motor, autosomal dominant 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.
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.
Pontocerebellar hypoplasia 1A
A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH1A is an autosomal recessive form characterized by an abnormally small cerebellum and brainstem, central and peripheral motor dysfunction from birth, gliosis and spinal cord anterior horn cells degeneration resembling infantile spinal muscular atrophy. Additional features include muscle hypotonia, congenital contractures and respiratory insufficiency that is evident at birth.
Neuronopathy, distal hereditary motor, autosomal dominant 6
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.
Menkes disease
An X-linked recessive disorder of copper metabolism characterized by generalized copper deficiency. MNKD results in progressive neurodegeneration and connective-tissue disturbances: focal cerebral and cerebellar degeneration, early growth retardation, peculiar hair, hypopigmentation, cutis laxa, vascular complications and death in early childhood. The clinical features result from the dysfunction of several copper-dependent enzymes. A mild form of the disease has been described, in which cerebellar ataxia and moderate developmental delay predominate.
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.
Neuronopathy, distal hereditary motor, autosomal recessive 8
An autosomal recessive disorder characterized by motor axonal neuropathy, slowly progressive distal muscle weakness mainly affecting the lower limbs, difficulty walking, and increased serum sorbitol. Additional variable features are distal sensory impairment, upper limb tremor, scoliosis, and mild hearing loss.
Developmental and epileptic encephalopathy 5
A disorder characterized by seizures associated with hypsarrhythmia, profound intellectual disability with lack of visual attention and speech development, as well as spastic quadriplegia.
Lipodystrophy, congenital generalized, 2
A form of congenital generalized lipodystrophy, a metabolic disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. Inheritance is autosomal recessive.
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.
Neuronopathy, distal hereditary motor, autosomal dominant 14
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.
Neuronopathy, distal hereditary motor, autosomal dominant 10
A form of distal hereditary motor neuronopathy, a heterogeneous group of neuromuscular diseases caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. HMND10 is characterized by length-dependent motor neuropathy primarily affecting the lower limbs, and onset of distal muscle weakness and atrophy in early childhood resulting in walking difficulties and gait abnormalities. Some affected individuals have pyramidal signs, including hyperreflexia. More variable features may include mild intellectual disability, minor gyration defects on brain imaging, foot deformities, and connective tissue defects.
Spastic paraplegia 31, 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.
Spastic paraplegia 12, 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.
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.
Neuronopathy, distal hereditary motor, autosomal dominant 9
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. HMND9 is characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs.
Neuronopathy, hereditary motor, autosomal recessive 7
An autosomal recessive, neuromyopathic disorder that manifests in childhood or adulthood with proximal and distal muscle weakness predominantly of the lower limbs. Affected individuals have difficulty climbing stairs and problems standing on the heels. Most patients have foot deformities, and some may have leg muscle atrophy. Muscle biopsy and electrophysiologic studies are consistent with both a myopathic process and an axonal motor neuropathy.
Neuronopathy, distal hereditary motor, autosomal dominant 7
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. HMND7 is characterized by onset in the second decade of progressive distal muscle wasting and weakness affecting the upper and lower limbs and resulting in walking difficulties and hand grip. There is significant muscle atrophy of the hands and lower limbs. The disorder is associated with vocal cord paresis due to involvement of the tenth cranial nerve.
Medicamentos e terapias
Mecanismo: Survival motor neuron protein exogenous gene
Variantes genéticas (ClinVar)
373 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 714 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
56 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 — Neuropatia motora distal hereditária
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Publicações mais relevantes
REEP1 Accumulation Disrupts ER Integrity and Drives Spinal Motoneuron Degeneration in Distal Hereditary Motor Neuropathy.
REEP1 contributes to the shaping of the endoplasmic reticulum (ER) through conserved transmembrane hairpins and a long C-terminal amphipathic helix. REEP1 loss-of-function causes hereditary spastic paraplegia due to degeneration of cortical motoneuron axons. Patients with deletion of REEP1 exon5 (Δexon5), which deletes part of its amphipathic helix, however, develop muscle atrophy due to degeneration of spinal motoneuron axons (distal hereditary motor neuropathy/dHMN). It is known that REEP1 knockout mice exhibit simplified ER structures in cortical motoneurons. Here, we show that these neurons are progressively lost while spinal motoneurons remain intact. Conversely, Δexon5 knockin (KI) mice lose spinal motoneurons preceded by ER fragmentation, whereas cortical motoneurons remain intact. Mechanistically, REEP1 undergoes ubiquitination and proteasomal degradation, a process compromised in the Δexon5 variant due to impaired ubiquitination, which thus accumulates in peripheral nerves. Proteomic analysis identifies HUWE1 as the E3 ligase responsible for REEP1 turnover. Modeling and liposome shaping assays reveal that the Δexon5 variant retains its capacity to induce membrane curvature. Consistently, other REEP1 variants associated with dHMN also show compromised ubiquitination and preserved transmembrane hairpins. Therefore, it is proposed that accumulation of shaping-competent REEP1 variants in the ER drives ER fragmentation and spinal motoneuron degeneration in dHMN. The purpose of this overview is to: 1.. Describe the clinical characteristics of CMT hereditary neuropathy; 2.. Review the causes of CMT hereditary neuropathy; 3.. Provide an evaluation strategy to identify the cause of CMT hereditary neuropathy in a proband (when possible); 4.. Review management of CMT hereditary neuropathy; 5.. Inform genetic counseling of family members of an individual with CMT hereditary neuropathy.
A heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy.
We report a family affected with childhood onset distal muscle weakness with a heterozygous chromosome 9q34 deletion encompassing the SPTAN1 gene. The deletion was detected through exome-sequencing based copy number variant (CNV) detection, segregates in four patients and is non-penetrant in two other relatives. Electromyography, muscle MRI and muscle biopsy revealed a myopathic disease phenotype. Cellular consequences of the deletion were investigated using qPCR and western blotting on patient-derived fibroblasts, which revealed a reduction of RNA but not protein levels. Immunocytochemistry was performed on muscle tissue which did not reveal reduction of α-II-spectrin. SPTAN1 loss-of-function variants have previously been reported to cause distal hereditary motor neuropathy and recently distal myopathy. Here, we confirm the role of SPTAN1 haploinsufficiency as a cause of distal myopathy. We propose an age-dependent lack of α-II-spectrin and suggest CNV detection in repurposed exome sequencing as an important diagnostic tool.
Novel Biallelic PLEKHG5 Variant Associated With Intermediate Charcot-Marie-Tooth Disease: Case Report From South America.
Biallelic pathogenic variants in PLEKHG5 are associated with two distinct recessive phenotypes, including distal hereditary motor neuropathy AR type 4 and intermediate Charcot-Marie-Tooth disease type C (CMT). No South American cases have been previously reported. We evaluated a male patient with suspected hereditary neuropathy using clinical, electrophysiological, and genetic studies. Symptoms began at 12 years with progressive distal weakness. At 40 years, he had foot drop, pes cavus, distal atrophy, areflexia, and sensory loss to the knees. Disability scales indicated moderate impairment. Electroneuromyography revealed abolished responses in the lower limbs and motor conduction velocities in the intermediate range (35-40 m/s). Genetic analysis identified the homozygous variant c.59G>A (p.Arg20Gln) in PLEKHG5, currently classified as VUS. This reports presents a case from South American linking a homozygous PLEKHG5 variant to recessive intermediate CMT, expanding the geographic and phenotypic spectrum of PLEKHG5-related neuropathies.
Neuromuscular pathology and mitochondrial dysfunction in sorbitol dehydrogenase gene-related distal hereditary motor neuropathies.
Biallelic variants in sorbitol dehydrogenase (SORD) have been reported to be a major cause of autosomal recessive distal hereditary motor neuropathy (dHMN). In this study, the clinical and pathological features of 10 patients with SORD gene-related dHMN are reported. Homozygous c.757delG variant was detected in 6 patients while c.757delG, c.786 + 1G>A, c.218C>T, and a novel c.104T>A compound heterozygous variants were observed in the others. Serum sorbitol, xylitol, and D-arabinitol were measured by gas chromatography-mass spectrometry; increased sorbitol and xylitol, and decreased D-arabinitol were identified. Sural nerve biopsies showed mild loss of large, myelinated fibers, and a few thin myelinated fibers. Skeletal muscle biopsies exhibited a neurogenic pattern with vacuoles, tubular aggregates, and abnormal mitochondria. Proteomic analyses of muscle tissue were performed to explore potential mechanisms. Complex I deficiency was dominant in the proteomic analysis and the malic acid/oxaloacetic acid ratio was significantly higher in the patients than in controls. In summary, SORD gene-related dHMN is a systemic disorder of carbohydrate metabolism with subclinical myopathologic changes, including tubular aggregates and vacuoles. Mitochondrial complex I deficiency, may be a key mechanism in SORD gene-related dHMN.
Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe.
De novo or autosomal dominant BAG3 gene variants cause a wide range of skeletal and cardiac muscle diseases encompassing Charcot-Marie-Tooth disease, myofibrillar myopathy, cardiomyopathy or a combination of them. Given the severity and rarity of BAG3-neuromuscular diseases (NMDs), series of patients are lacking. Our aim was to characterize the clinical and genetic spectrum, in addition to the natural history of BAG3-NMDs in Europe. In this multicentre retrospective study, we collected clinical, ancillary and genetic data of patients with NMD and BAG3 variants, identified from European paediatric and adult neuromuscular reference centres from May to December 2023 following a call circulated through the European Reference Network EURO-NMD and other partners. Responses were received from 35 centres in 17 countries. Twenty-six patients (65.4% males, 34.6% females) with BAG3-NMD from 18 different families were included in the study. The c.626C>T p.(Pro209Leu) variant, carried by 16 patients, was the only recurrent variant and was associated with a homogeneous and severe phenotype, with predominantly lower limb motor weakness (n = 13, 81.25%) or heart failure (n = 3, 18.75%) as the presenting feature and with a mean age at symptom onset of 7.8 ± 3.4 years. Where available (n = 13), electroneuromyography showed a polyneuropathy with demyelinating features and a frequently associated myopathy. Eleven (68.8%) patients had restrictive cardiomyopathy on initial assessment. Orthopaedic manifestations were common, with contractures (n = 15, 93.8%), foot deformities (n = 11, 84.6%) and scoliosis and/or rigid spine (n = 12, 80%). At last follow-up (age 21.5 ± 8.6 years) of the patients carrying the p.(Pro209Leu) variant, 10 (62.5%) had lost ambulation, 14 (93.3%) had respiratory insufficiency (11 requiring ventilation) and 12 (75%) had a restrictive cardiomyopathy, leading to heart failure and heart transplantation in five and four patients, respectively. Eight (50%) patients died prematurely at a mean age of 22.5 ± 9.6 years, most frequently from sudden death (n = 5). The other 10 patients carried three other BAG3 variants and showed a milder disease course, with all patients remaining ambulatory, without cardiorespiratory manifestations at last follow-up. The p.(Arg309*) nonsense variant, known to cause isolated dilated cardiomyopathy, and the p.(Val505Glyfs*6) frameshift variant, resulting in a premature stop codon, caused distal hereditary motor neuropathy. This is the largest study of patients with BAG3-NMD, delineating the frequency, specific presentation and natural history in patients with the recurrent BAG3 p.(Pro209Leu) missense variant, crucial for informing patient management in the context of a rapidly progressive disease. All other BAG3 variants were rare and caused milder clinical presentations.
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Molecular, cellular, and clinical aspects of myofibrillar myopathy caused by HSPB8 frameshift mutations.
Novel Biallelic PLEKHG5 Variant Associated With Intermediate Charcot-Marie-Tooth Disease: Case Report From South America.
SYT2-Related Disease: A Case-Based Review.
REEP1 Accumulation Disrupts ER Integrity and Drives Spinal Motoneuron Degeneration in Distal Hereditary Motor Neuropathy.
Charcot-Marie-Tooth Hereditary Neuropathy Overview.
📚 EuropePMC97 artigos no totalmostrando 168
Novel Biallelic PLEKHG5 Variant Associated With Intermediate Charcot-Marie-Tooth Disease: Case Report From South America.
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Muscle & nerveThe roles of HSP40/DNAJ protein family in neurodegenerative diseases.
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciencesPathogenic variants in three families with distal muscle involvement.
Neuromuscular disorders : NMDHomozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.
Brain : a journal of neurologyNo Association between the SORD Gene and Amyotrophic Lateral Sclerosis in a Chinese Cohort.
Journal of clinical medicineNovel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy.
Brain : a journal of neurologyHeterogeneous Clinical Phenotypes of dHMN Caused by Mutation in HSPB1 Gene: A Case Series.
BiomoleculesDistal hereditary neuropathy associated with a novel mutation in alanyl-aminoacyl-tRNA synthetase.
Clinical neuropathologyHINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.
Orphanet journal of rare diseasesBiallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.
Human mutationWARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.
Human mutation[Analysis of a pedigree with distal hereditary motor neuropathy type 2A caused by mutation in HSPB8 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsDNAJB2 c.184C>T mutation associated with distal hereditary motor neuropathy with rimmed vacuolar myopathy.
Clinical neuropathologyAssociation of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy.
BMC medical genomicsInsights Into the Role of Heat Shock Protein 27 in the Development of Neurodegeneration.
Frontiers in molecular neuroscienceTherapeutic Potential of CKD-504, a Novel Selective Histone Deacetylase 6 Inhibitor, in a Zebrafish Model of Neuromuscular Junction Disorders.
Molecules and cellsPathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes.
Human mutationGenetic spectrum in a cohort of patients with distal hereditary motor neuropathy.
Annals of clinical and translational neurologyA National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.
GenesClinical and pathological study of SORD-related distal motor neuropathy caused by novel compound heterozygous mutations in a Chinese patient.
Clinical neurology and neurosurgeryAltered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1.
Neurobiology of diseaseClinical and Genetic Features of Biallelic Mutations in SORD in a Series of Chinese Patients With Charcot-Marie-Tooth and Distal Hereditary Motor Neuropathy.
Frontiers in neurologyVariants of aminoacyl-tRNA synthetase genes in Charcot-Marie-Tooth disease: A Korean cohort study.
Journal of the peripheral nervous system : JPNSJuvenile amyotrophic lateral sclerosis associated with biallelic c.757delG mutation of sorbitol dehydrogenase gene.
Amyotrophic lateral sclerosis & frontotemporal degeneration[Clinical, pathological and genetic characteristics of 8 patients with distal hereditary motor neuropathy].
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciencesPediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center.
Annals of clinical and translational neurologyGenotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from central south China.
European journal of neurologyEarly and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population.
Annals of clinical and translational neurologyCharcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations.
Annals of clinical and translational neurologyCopper Toxicity Associated With an ATP7A-Related Complex Phenotype.
Pediatric neurologyA novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy.
Journal of human geneticsHomozygosity for rs17775810 Minor Allele Associated With Reduced Mortality of COVID-19 in the UK Biobank Cohort.
In vivo (Athens, Greece)A rare cause of adult-onset bilateral vocal cord paralysis.
BMJ case reportsBroadening the genetic spectrum of distal hereditary motor neuropathy.
European journal of neurologyA novel Q93H missense mutation in DCTN1 caused distal hereditary motor neuropathy type 7B and Perry syndrome from a Chinese family.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyBiallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy.
NPJ genomic medicineGenetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families.
Frontiers in neurologyDistal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.
European journal of neurologyIdentification of a Novel de Novo Variant in the SYT2 Gene Causing a Rare Type of Distal Hereditary Motor Neuropathy.
GenesLate-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies.
Journal of neurology, neurosurgery, and psychiatryClinical, Genetic, and Disability Profile of Pediatric Distal Hereditary Motor Neuropathy.
NeurologyInherited neuropathies with predominant upper limb involvement: genetic heterogeneity and overlapping pathologies.
European journal of neurologyAltered Sensory Neuron Development in CMT2D Mice Is Site-Specific and Linked to Increased GlyRS Levels.
Frontiers in cellular neuroscienceA novel HSPB1 mutation associated with a late onset CMT2 phenotype: Case presentation and systematic review of the literature.
Journal of the peripheral nervous system : JPNSMutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants.
Neuromuscular disorders : NMDValidation of the Italian version of the Charcot-Marie-Tooth Health Index.
Journal of the peripheral nervous system : JPNSMutations in heat shock protein beta-1 (HSPB1) are associated with a range of clinical phenotypes related to different patterns of motor neuron dysfunction: A case series.
Journal of the neurological sciencesSmall heat shock proteins in neurodegenerative diseases.
Cell stress & chaperonesMolecular analysis and clinical diversity of distal hereditary motor neuropathy.
European journal of neurologyCurrent understanding of and emerging treatment options for spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Cellular and molecular life sciences : CMLSClinical features of inherited neuropathy with BSCL2 mutations in Japan.
Journal of the peripheral nervous system : JPNSNew phenotype of DCTN1-related spectrum: early-onset dHMN plus congenital foot deformity.
Annals of clinical and translational neurologyClinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants.
Journal of neuromuscular diseasesModelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs.
Disease models & mechanismsIdentification of a homozygous VRK1 mutation in two patients with adult-onset distal hereditary motor neuropathy.
Muscle & nerveAre providers prepared for genomic medicine: interpretation of Direct-to-Consumer genetic testing (DTC-GT) results and genetic self-efficacy by medical professionals.
BMC health services research[Progress of clinical and genetic research on distal hereditary motor neuropathy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsHuman HSPB1 mutation recapitulates features of distal hereditary motor neuropathy (dHMN) in Drosophila.
Biochemical and biophysical research communicationsA recurrent GARS mutation causes distal hereditary motor neuropathy.
Journal of the peripheral nervous system : JPNSMutational Analysis of Sigma-1 Receptor's Role in Synaptic Stability.
Frontiers in neuroscienceVariants in MME are associated with autosomal-recessive distal hereditary motor neuropathy.
Annals of clinical and translational neurologyA novel homozygous FBXO38 variant causes an early-onset distal hereditary motor neuronopathy type IID.
Journal of human geneticsA novel WARS mutation causes distal hereditary motor neuropathy in a Chinese family.
Brain : a journal of neurologyCharcot-Marie-Tooth 2F (Hsp27 mutations): A review.
Neurobiology of diseaseA novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family.
Clinical geneticsA novel VRK1 mutation associated with recessive distal hereditary motor neuropathy.
Annals of clinical and translational neurologyNeuropathy-causing mutations in HSPB1 impair autophagy by disturbing the formation of SQSTM1/p62 bodies.
AutophagyIdentification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype.
Neurology. GeneticsTDRKH is a candidate gene for an autosomal dominant distal hereditary motor neuropathy.
European journal of medical geneticsCharacterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations.
Journal of medical geneticsMolecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.
BMJ openA Novel Mutation of GARS in a Chinese Family With Distal Hereditary Motor Neuropathy Type V.
Frontiers in neurologySIGMAR1 gene mutation causing Distal Hereditary Motor Neuropathy in a Portuguese family.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of MyologyConfirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales.
Clinical geneticsStructural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation.
Molecular genetics & genomic medicineGlycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V.
Case reports in pediatricsClinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan.
Journal of the peripheral nervous system : JPNSSmall heat shock protein B3 (HSPB3) mutation in an axonal Charcot-Marie-Tooth disease family.
Journal of the peripheral nervous system : JPNSBehavioral defects in a DCTN1G71A transgenic mouse model of Perry syndrome.
Neuroscience lettersA nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motif.
Human mutationRecessive distal motor neuropathy with pyramidal signs in an Omani kindred: underlying novel mutation in the SIGMAR1 gene.
European journal of neurologyCholine transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
Brain : a journal of neurologyAltered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.
European journal of neurologyA newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation.
NeurogeneticsNovel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.
Brain : a journal of neurologyA novel p.T139M mutation in HSPB1 highlighting the phenotypic spectrum in a family.
Brain and behaviorHSPB1 mutations causing hereditary neuropathy in humans disrupt non-cell autonomous protection of motor neurons.
Experimental neurologyPerry Syndrome: A Distinctive Type of TDP-43 Proteinopathy.
Journal of neuropathology and experimental neurologyA knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8.
Acta neuropathologicaL-3-n-Butylphthalide Protects HSPB8 K141N Mutation-Induced Oxidative Stress by Modulating the Mitochondrial Apoptotic and Nrf2 Pathways.
Frontiers in neuroscienceMitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease.
Human molecular geneticsFurther Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy.
Child neurology openA recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.
Brain : a journal of neurologyGenetic heterogeneity of motor neuropathies.
NeurologyAxonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.
Human mutationHDAC6 Inhibitors Rescued the Defective Axonal Mitochondrial Movement in Motor Neurons Derived from the Induced Pluripotent Stem Cells of Peripheral Neuropathy Patients with HSPB1 Mutation.
Stem cells internationalMutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease.
Acta neuropathologica communicationsChaperonopathies: Spotlight on Hereditary Motor Neuropathies.
Frontiers in molecular biosciencesDifferentiating lower motor neuron syndromes.
Journal of neurology, neurosurgery, and psychiatryInteraction of small heat shock proteins with light component of neurofilaments (NFL).
Cell stress & chaperonesVariable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family.
Muscle & nerveHereditary neuropathies: An update.
Revue neurologiqueCharacterization of New Transgenic Mouse Models for Two Charcot-Marie-Tooth-Causing HspB1 Mutations using the Rosa26 Locus.
Journal of neuromuscular diseasesPilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.
Neuromuscular disorders : NMDHSPB3 protein is expressed in motoneurons and induces their survival after lesion-induced degeneration.
Experimental neurologySIGMAR1 mutation associated with autosomal recessive Silver-like syndrome.
NeurologyDistal hereditary motor neuropathy type 7B with Dynactin 1 mutation.
Molecular medicine reportsA 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34-q36.2.
Human geneticsAberrant Subcellular Dynamics of Sigma-1 Receptor Mutants Underlying Neuromuscular Diseases.
Molecular pharmacologyLoss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling.
Human molecular geneticsCharacterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX).
Metallomics : integrated biometal scienceCharcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience.
Clinical neurology and neurosurgeryLate onset dHMN II caused by c.404C>G mutation in HSPB1 gene.
Journal of the peripheral nervous system : JPNSClinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy.
PloS oneDistal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis.
Practical neurologyTruncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress.
BBA clinicalOverexpression of mutant HSP27 causes axonal neuropathy in mice.
Journal of biomedical scienceA SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy.
NeurologyGenotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.
Journal of neurologyThe shifting paradigm of Charcot-Marie-Tooth disease.
Revue neurologiqueMitochondrial dynamics and inherited peripheral nerve diseases.
Neuroscience lettersThe insertion domain 1 of class IIA dimeric glycyl-tRNA synthetase is a rubredoxin-like zinc ribbon.
Journal of structural biology[Clinical practice of hereditary motor neuropathy (HMN) and hereditary sensory and autonomic neuropathy (HSAN)].
Rinsho shinkeigaku = Clinical neurologyX-linked spinal muscular atrophy in mice caused by autonomous loss of ATP7A in the motor neuron.
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A condição é de causa genética, associada a alterações em diferentes genes como GARS1, TBCE, COQ7, DNAJB2, BAG3 e outros. Essas variantes alteram proteínas vitais para a homeostase dos neurônios motores e das fibras musculares.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
5 fontes citadas no texto · 8 publicações do grafo RarasNet (PubMed) · 5 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. (2026). Neuropatia motora distal hereditária. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/neuropatia-motora-distal-hereditaria
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Neuropatia motora distal hereditária
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- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- NIH/GARD
- fonte: GARD (NIH)
- Dado público estruturado
- fonte: Wikidata
- Moléculas estudadas na doença
- fonte: OpenTargets
