Um caso de distúrbio distônico causado por uma modificação hereditária do genoma do indivíduo.
Introdução
O que você precisa saber de cara
A **distonia genética rara** é um distúrbio do movimento causado por alterações hereditárias no DNA. A pessoa e a família podem notar contrações musculares involuntárias na face, desvios na coluna como escoliose, contraturas articulares e atraso no neurodesenvolvimento. O Ministério da Saúde possui um protocolo clínico para distonias em geral, embora não haja medicamentos dispensados especificamente listados para esta forma genética no SUS. Existem testes genéticos catalogados internacionalmente para apoiar a identificação diagnóstica precisa das alterações associadas.
Um caso de distúrbio distônico causado por uma modificação hereditária do genoma do indivíduo.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 191 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 421 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
47 genes identificados com associação a esta condição.
Curadoria gene-doença
fontes oficiaisEpisodic kinesigenic dyskinesia 3
A form of paroxysmal kinesigenic dyskinesia, a neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements. These attacks can involve dystonic postures, chorea, or athetosis. EKD3 is an autosomal dominant form with incomplete penetrance and onset in late childhood or early adolescence. Symptoms are usually triggered by sudden movement or stress, and resolve in most patients in their early twenties or later.
Dystonia 30
A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT30 is characterized by early onset and predominantly cervical, bulbar, orofacial, and upper limb involvement. Some patients have a more complex phenotype with neurocognitive impairment, including mild intellectual disability or psychiatric manifestations. Loss of ambulation is observed in some cases. DYT30 inheritance is autosomal dominant with incomplete penetrance.
Dystonia-deafness syndrome 1
An autosomal dominant form of dystonia with juvenile onset, associated with congenital or childhood-onset sensorineural deafness. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. Some DDS1 patients have dysmorphic features, skeletal anomalies, and/or mild developmental delay with impaired intellectual development.
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
An autosomal dominant disorder characterized by global developmental delay affecting motor, cognitive, and speech domains apparent in early childhood or infancy. Most patients also show movement abnormalities, often hypotonia with later development of dopa-responsive dystonia or parkinsonism. About half of patients develop various types of seizures.
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
An autosomal dominant disorder characterized by global developmental delay apparent in early childhood, cognitive impairment, ataxia, poor or absent speech with dysarthria, hypotonia, hypertonia, extrapyramidal signs, tremor, and abnormal involuntary movements. Affected individuals also exhibit neurological regression in the setting of febrile illness or infection. Many patients have seizures. Brain imaging shows diffuse white matter abnormalities with poor myelination.
Dystonia 37, early-onset, with striatal lesions
A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT37 is an autosomal recessive form characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life. Affected individuals show delayed motor development and may have impaired intellectual development.
Lissencephaly, X-linked 2
A classic type lissencephaly associated with abnormal genitalia. Patients have severe congenital or postnatal microcephaly, lissencephaly, agenesis of the corpus callosum, neonatal-onset intractable epilepsy, poor temperature regulation, chronic diarrhea, and ambiguous or underdeveloped genitalia.
Dystonia 6, torsion
A primary torsion dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 6 is characterized by onset in early adulthood, cranial or cervical involvement in about half of the cases, and frequent progression to involve multiple body regions.
Dystonia 4, torsion, autosomal dominant
A form of torsion dystonia, a disease defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. 'Torsion' refers to the twisting nature of body movements, often affecting the trunk. DYT4 is characterized by onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other muscles, such as the neck or limbs. Some patients develop an ataxic gait.
Leukodystrophy, hypomyelinating, 12
An autosomal recessive neurologic disorder characterized by developmental delay, spasticity, truncal hypotonia, acquired microcephaly, intellectual disability with variable seizure disorder, accompanied by thin corpus callosum, paucity of white matter and delayed myelination.
Spinocerebellar ataxia 6
Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA6 is an autosomal dominant cerebellar ataxia (ADCA), mainly caused by expansion of a CAG repeat in the coding region of CACNA1A. There seems to be a correlation between the repeat number and earlier onset of the disorder.
Striatonigral degeneration, childhood-onset
An autosomal recessive neurological disorder characterized by sudden childhood onset of developmental regression. Affected children develop impaired movements with dystonia, progressively become non-ambulatory and non-verbal, and exhibit striatal abnormalities on MRI.
Dystonia 35, childhood-onset
A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT35 is an autosomal recessive form characterized by the onset of a dystonic movement disorder in the first year of life.
Dystonia 3, torsion, X-linked
An X-linked dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT3 is characterized by severe progressive torsion dystonia followed by parkinsonism. It has a well-defined pathology of extensive neuronal loss and mosaic gliosis in the striatum (caudate nucleus and putamen) which appears to resemble that in Huntington disease.
Woodhouse-Sakati syndrome
A rare autosomal recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome.
Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency
A form of DOPA-responsive dystonia. In the majority of cases, patients manifest progressive psychomotor retardation, dystonia and spasticity. Cognitive anomalies are also often present. The disease is due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures.
Lymphatic malformation 7
A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM7 is an autosomal dominant form with variable expressivity. Some individuals present with severe non-immune hydrops fetalis, which may cause perinatal demise or fully resolve after the neonatal period. Others present with no edema and have milder clinical features, such as atrial septal defect or varicose veins as adults.
Hyperphenylalaninemia, BH4-deficient, B
A disease characterized by malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency, and defective neurotransmission due to depletion of the neurotransmitters dopamine and serotonin. The principal symptoms include: psychomotor retardation, tonicity disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing. Some patients may present a phenotype of intermediate severity between severe hyperphenylalaninemia and mild dystonia. In this intermediate phenotype, there is marked motor delay, but no intellectual disability and only minimal, if any, hyperphenylalaninemia.
Dystonia 31
A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT31 is an autosomal recessive, progressive form with onset from childhood to young adulthood. Involuntary muscle twisting movements and postural abnormalities affect the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties.
Dystonia 11, myoclonic
A myoclonic dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT11 is characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Inheritance is autosomal dominant. The age of onset, pattern of body involvement, presence of myoclonus and response to alcohol are all variable.
Dystonia 12
An autosomal dominant dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT12 patients develop dystonia and parkinsonism between 15 and 45 years of age. The disease is characterized by an unusually rapid evolution of signs and symptoms. The sudden onset of symptoms over hours to a few weeks, often associated with physical or emotional stress, suggests a trigger initiating a nervous system insult resulting in permanent neurologic disability.
Episodic ataxia 1
An autosomal dominant disorder characterized by brief episodes of ataxia and dysarthria. Neurological examination during and between the attacks demonstrates spontaneous, repetitive discharges in the distal musculature (myokymia) that arise from peripheral nerve. Nystagmus is absent.
Dystonia 1, torsion, autosomal dominant
A primary torsion dystonia, and the most common and severe form. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 1 is characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body, in the absence of other neurological symptoms. Typically, symptoms develop first in an arm or leg in middle to late childhood and progress in approximately 30% of patients to other body regions (generalized dystonia) within about five years. 'Torsion' refers to the twisting nature of body movements observed in DYT1, often affecting the trunk. Distribution and severity of symptoms vary widely between affected individuals, ranging from mild focal dystonia to severe generalized dystonia, even within families.
Deafness, dystonia, and cerebral hypomyelination
An X-linked recessive syndrome characterized by sensorineural deafness, intellectual disability, dysmorphic facial features, dystonia, pyramidal signs, almost no psychomotor development, and hypomyelination on brain imaging.
Bethlem myopathy 1C
A form of Bethlem myopathy, a slowly progressive muscular dystrophy characterized by joint contractures, most frequently affecting the elbows and ankles, and muscle weakness and wasting involving the proximal and extensor muscles more than the distal and flexor ones. The clinical onset more often occurs in childhood or adulthood, but it can be prenatal with decreased fetal movements or neonatal with hypotonia. The hallmark of Bethlem myopathy is long finger flexion contractures. BTHLM1C inheritance is autosomal dominant.
Dyskinesia, limb and orofacial, infantile-onset
An autosomal recessive, early-onset hyperkinetic movement disorder characterized by axial hypotonia, dyskinesia of the limbs and trunk, orofacial dyskinesia, drooling, and dysarthria. The severity of the hyperkinesis is variable.
Ataxia telangiectasia
A rare recessive disorder characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. Patients have a strong predisposition to cancer; about 30% of patients develop tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by ionizing radiation and resistant to inhibition of DNA synthesis following irradiation.
Dystonia 28, childhood-onset
A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT28 is an autosomal dominant, progressive form characterized by onset in the first decade of life and variable severity. Dystonia begins focally in the lower limbs, resulting in gait difficulties, with later progression to other body regions, including the upper limbs, neck, and orofacial region.
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.
Dystonia 34, myoclonic
A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT34 is an autosomal dominant form characterized by childhood-onset dystonia predominantly affecting hands and neck, with a fast tremor with superimposed myoclonus and, in some individuals, subtle cerebellar signs.
Dystonia 26, myoclonic
A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT26 is an autosomal dominant, progressive disorder characterized by a combination of non-epileptic myoclonic jerks and dystonia. Affected individuals manifest myoclonic jerks in the upper limbs during the first or second decade of life, and later develop dystonia with predominant involvement of the craniocervical regions and sometimes the trunk and/or lower limbs.
Parkinsonism-dystonia 2, infantile-onset
An autosomal recessive disorder characterized by infantile onset of abnormal movements, including parkinsonism, dystonia, and poor fine motor skills, as well as autonomic dysfunction, including abnormal sweating, cold extremities, and poor sleep. Some patients have variable degrees of developmental delay.
Dystonia 16
An early-onset dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT16 patients have progressive, generalized dystonia with axial muscle involvement, oro-mandibular (sardonic smile) and laryngeal dystonia and, in some cases, parkinsonian features.
Dystonia 2, torsion, autosomal recessive
A form of torsion dystonia, a disease defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. 'Torsion' refers to the twisting nature of body movements, often affecting the trunk. DYT2 is a slowly progressive form that first affects distal limbs and later involves the neck, orofacial, and craniocervical regions.
Dystonia 25
A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT25 is an autosomal dominant neurologic disorder characterized by adult onset of focal dystonia, usually involving the neck. The dystonia most often progresses to involve other regions, particularly the face and laryngeal muscles, and less commonly the trunk and limbs.
Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities
An autosomal recessive neurologic disorder characterized by childhood-onset dystonia, basal ganglia degeneration and optic atrophy with decreased visual acuity. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYTOABG severity is variable, and some patients lose independent ambulation.
Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures
An autosomal recessive, mitochondrial disorder with a broad phenotypic spectrum ranging from severe neonatal lactic acidosis, encephalomyopathy and early death to an attenuated course with milder manifestations. Clinical features include delayed psychomotor development, intellectual disability, hypotonia, dystonia, ataxia, and spasticity. Severe combined respiratory chain deficiency may be found in severely affected individuals.
Episodic kinesigenic dyskinesia 1
An autosomal dominant form of paroxysmal kinesigenic dyskinesia, a neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements, triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis.
Parkinsonism-dystonia 1, infantile-onset
An autosomal recessive neurodegenerative disorder characterized by infantile onset of parkinsonism and dystonia. Other neurologic features include global developmental delay, bradykinesia and pyramidal tract signs.
Dystonia 24
A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT24 is an autosomal dominant focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs.
Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance
A complex disorder characterized by generalized seizures with onset in infancy, delayed psychomotor development, ataxia, sensorineural hearing loss, hypokalemia, metabolic alkalosis, and hypomagnesemia.
GLUT1 deficiency syndrome 1
A neurologic disorder showing wide phenotypic variability. The most severe 'classic' phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity. Onset of seizures, usually characterized by apneic episodes, staring spells, and episodic eye movements, occurs within the first 4 months of life. Other paroxysmal findings include intermittent ataxia, confusion, lethargy, sleep disturbance, and headache. Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe intellectual disability.
Paroxysmal non-kinesigenic dyskinesia 1
An autosomal dominant movement disorder characterized by attacks of dystonia, chorea, and athetosis. The attacks of involuntary movements are brought on by stress, alcohol, fatigue or caffeine, and generally last between a few seconds and four hours or longer. The attacks may begin in one limb and spread throughout the body, including the face.
Dystonia 22, adult-onset
A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT22AO is an autosomal recessive form characterized by focal dystonia or tremor and mild cognitive impairment.
Medicamentos e terapias
Mecanismo: Sodium channel alpha subunit blocker
Mecanismo: Synaptosomal nerve-associated protein 25 (SNAP-25) inhibitor
Mecanismo: Voltage-gated N-type calcium channel alpha-1B subunit blocker
Mecanismo: Synaptosomal nerve-associated protein 25 (SNAP-25) inhibitor
Variantes genéticas (ClinVar)
353 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
200 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 — Distonia genética rara
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
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Tyrosine Hydroxylase Deficiency Impairs TH Axonal Transport, Brain Function, and Neuronal Plasticity.
Tyrosine hydroxylase deficiency (THD) is a rare genetic disorder caused by biallelic pathogenic variants in the Th gene, leading to a deficiency in the rate-limiting enzyme for the synthesis of dopamine (DA) and other catecholamine neurotransmitters. THD is associated with dystonia and infantile parkinsonism with a broad and complex spectrum and variable response to l-Dopa therapy. TH1-p.R202H is a frequent THD variant that affects TH stability and activity. The Th knock-in (Th-ki) mice with the equivalent mutation (Th-p.R203H) present reduced TH and DA levels, biological and molecular alterations, different phosphorylation patterns and altered distribution of dopaminergic markers relative to wild-type mice. Th-ki mice displayed significantly reduced TH, especially in the striatum, but also in the cortex, olfactory bulb, cerebellum, substantia nigra, globus pallidus, and spinal cord, a decrease that is not associated with dopaminergic neuronal degeneration. No changes were observed in Th-mRNA expression, and the decreased level of TH in the concrete brain areas in Th-ki mice appears to be due to defective TH protein axonal transport. Moreover, we characterized the development of dopaminergic neurons in the substantia nigra and neuronal plasticity in various brain regions. Our results indicated that alterations in TH expression within specific striatal GABAergic interneurons due to TH deficiency may potentially disrupt the balance of inhibitory neurotransmission in the striatum. Overall, our findings demonstrate that TH deficiency disrupts striatal inhibitory circuitry and triggers compensatory neuronal plasticity, without causing neuronal degeneration.
Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome).
Biallelic loss-of-function variants in FBXO31 cause autosomal-recessive intellectual disability. A recurrent de novo variant, c.1000G>A(p.Asp334Asn), has been described in association with an autosomal-dominant phenotype. To refine this phenotype and its clinical implications, we re-evaluated three published cases and ascertained four additional probands via advocacy networks, GeneMatcher, and clinician referral. Phenotyping included neurologic, behavioral, and dysmorphology assessment. All seven individuals carried the recurrent de novo FBXO31 p.Asp334Asn variant. A core neurodevelopmental profile was observed and included cerebral palsy (mixed hypotonia, spasticity, and dystonia), global developmental delay/intellectual disability, and speech impairment. Neuropsychiatric features were sometimes prominent and included attention-deficit/hyperactivity disorder, anxiety, stereotypies, autistic features, and behavioral dysregulation. Neuroimaging often showed a hypoplastic corpus callosum and posterior-predominant white-matter changes. In one individual, gray matter heterotopias were also observed. A subtle but consistent facial gestalt was noted. Recurrent FBXO31 p.Asp334Asn variants lead to a recognizable neurodevelopmental syndrome. Based on our findings, we recommend including FBXO31 in diagnostic algorithms for cerebral palsy and neurodevelopmental disorders. We propose the descriptive term "autosomal dominant FBXO31-associated neurodevelopmental disorder," and-consistent with the validating laboratory and with support from the FBXO31 Foundation-propose the eponym "Kruer syndrome."
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KMT2B-related disorders in Austria: clinical features and long-term outcome after deep brain stimulation.
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BMJ case reportsSpinocerebellar ataxia type 40 presenting with isolated cervical dystonia: expanding the phenotypic spectrum.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyDystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum.
NeurogeneticsDBSMatchMaker: Global Uptake and Insights from the First Year of a Collaborative Deep Brain Stimulation Platform.
Movement disorders : official journal of the Movement Disorder SocietyLongitudinal Syringomyelia, Cervical Dystonia, and Action Tremor in Trichorhinophalangeal Syndrome Type I - A Case Report.
Tremor and other hyperkinetic movements (New York, N.Y.)CAPOS and Beyond: ATP1A3 Variants in Pediatric Movement Disorders - Case Reports.
Molecular syndromologyHypoglycemic Encephalopathy With Multisystem Organ Dysfunction in an Infant With MEGD(H)EL Syndrome.
CureusDNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes.
Neurology. GeneticsANO3-related tremulous dystonia: case report.
Acta neurologica BelgicaNavigating the Uncommon: "Juvenile-Onset Huntington Disease".
Journal of child neurologyNeurodevelopmental Disorder with Psychomotor Delay, Hearing Loss, and Spasticity Caused by Compound Heterozygous SPATA5L1 Variants-Expanding Phenotype.
Journal of clinical medicineA Novel VPS13A Deletion in VPS13A Disease (Chorea-Acanthocytosis): A Case Report with Brief Literature Summary.
International journal of molecular sciencesExpanding the genotypic and phenotypic spectrum of DYT-TSPOAP1: First report from India.
Parkinsonism & related disordersConcurrent surgical management of pineoblastoma and Chiari type 1.5 malformation: a case report.
BMC surgeryACTB-associated dystonia-deafness syndrome with good response to DBS GPi revisited.
Clinical parkinsonism & related disordersFrom SGCE gene to symptoms: decoding myoclonus-dystonia.
Acta neurologica BelgicaL-DOPA in diurnal fluctuating dystonia: two different clinical presentations, one treatment.
NeurogeneticsParoxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion: A Case Report.
Case reports in neurologyNeurodegeneration With Brain Iron Accumulation and Ferroptosis Disorders in Children and Adults: An Imaging Review.
Journal of neuroimaging : official journal of the American Society of NeuroimagingTherapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism.
medRxiv : the preprint server for health sciencesClinical spectrum and outcomes of anti-metabotropic glutamate receptor 5 encephalitis in Chinese patients: a case report and literature review.
Frontiers in immunologyIron Dysregulation in Neurodegeneration with Brain Iron Accumulation (NBIA): Links between Mutations Occurring in BPAN, PKAN, MPAN and PLAN Types and Iron Metabolism.
Molecular neurobiology[Type 28 spinocerebellar ataxia].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaBiallelic variants in TNR cause neurodevelopmental disorders with variable expressivity.
Journal of human geneticsPostinfectious Manifestation of Wilson's Disease in COVID-19 Presenting as Writer's Cramp: A Case Report.
Acta neurologica TaiwanicaConsensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency.
Journal of inherited metabolic diseaseExpanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants.
Movement disorders : official journal of the Movement Disorder SocietyHomozygous Pathogenic MYH3 Variants Associated With Arthrogryposis and Lingual Dystonia.
Tremor and other hyperkinetic movements (New York, N.Y.)SCN3A-related neurodevelopmental disorder: Clinical case reports and biophysical characterization.
Channels (Austin, Tex.)Severe upper airway dysfunction in GNAO1-related disorders.
Italian journal of pediatricsAltered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency.
Movement disorders : official journal of the Movement Disorder SocietyGenetic complexity in pediatric onset epilepsy-movement disorder syndromes: Insights from a cohort of 97 subjects.
EpilepsiaPhenotypic, Genotypic Characteristics, and Treatment Strategies of Pediatric Tyrosine Hydroxylase Deficiency: A Single-Center Retrospective Analysis of 51 Cases.
Movement disorders clinical practiceFITM2-Related Siddiqi Syndrome in Two Iranian Siblings.
Clinical case reportsRare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease.
Movement disorders : official journal of the Movement Disorder SocietyBiallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency.
Brain communicationsRRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications.
Movement disorders : official journal of the Movement Disorder SocietyKetogenic diet for alternating hemiplegia of childhood: Case report and literature review.
MedicineMutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.
Annals of neurologyIntegrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia.
Movement disorders : official journal of the Movement Disorder SocietyManaging Dystonia in Partington Syndrome.
Movement disorders clinical practiceAssociation of alcohol responsiveness and non-motor symptoms in isolated adult-onset dystonia.
Journal of neurologyA novel alpha-synuclein G14R missense variant is associated with atypical neuropathological features.
Molecular neurodegenerationMCT8 Deficiency in Infancy: Opportunities for Early Diagnosis and Screening.
International journal of neonatal screeningVPS16-Related Dystonia: Expanding the Clinical Spectrum and Therapeutic Insights.
Movement disorders clinical practiceFunctional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2-Related Disorders.
Annals of clinical and translational neurologyParoxysmal Dyskinesias in Paediatric Age: A Systematic Review.
Journal of clinical medicineIsolated Non-Progressive Hemidystonia in a Patient Homozygous for H63D Variant of Hereditary Hemochromatosis: A Case Report and Systematic Literature Review of Movement Disorders in Hereditary Hemochromatosis.
Diagnostics (Basel, Switzerland)Genetic and clinical profile of a Brazilian cohort of dopa-responsive dystonia.
Journal of the neurological sciencesPreliminary observations of glucose metabolism dysregulation in pediatric Huntington's disease.
Frontiers in neurologyCase Report of Pediatric HPCA-Associated Dystonia: Analysis of Ca2+ and K+ Channel Dynamics and Experience With Pallidal Deep Brain Stimulation.
Pediatric neurologyLong-Term Efficacy of Bilateral Globus Pallidus Internus Deep Brain Stimulation in Myoclonus-Dystonia Associated with KCNN2 Gene Mutation: A Case Study.
International journal of molecular sciencesA Homozygous c.74A>G Variant in PRKRA Causes DYT-PRKRA: Extensive Familial Segregation and a Variant of Uncertain Significance (VUS) Reclassification.
Movement disorders : official journal of the Movement Disorder SocietyDeep Brain Stimulation in Children and Adolescents with ε-Sarcoglycan Myoclonus Dystonia Causes a Sustained Improvement in Motor Functionality and Quality of Life.
Movement disorders : official journal of the Movement Disorder SocietyBiallelic TSEN2 variants causing pontocerebellar hypoplasia type 2.
Journal of human geneticsUnravelling neurodegeneration with cerebral calcifications: Krabbe disease masquerading as Aicardi-Goutieres syndrome.
BMJ case reportsTreatable and preventable causes of inborn errors of metabolism: Cohort of neurotransmitter disorders in children from India.
Brain & developmentBiallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.
Brain : a journal of neurologyThe mitochondrial trans-2-enoyl-CoA reductase is necessary for mitochondrial homeostasis in C. elegans.
GeneticsIdentification of three novel GNAO1 variants in a Chinese cohort with GNAO1 encephalopathy: expanding the clinical and genetic spectrum.
Orphanet journal of rare diseasesDual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial.
Nature medicineBiomarker Validation in NPC1: Foundations for Clinical Trials and Regulatory Alignment.
Journal of inherited metabolic diseaseMolecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients.
Brain : a journal of neurologyRare PANK2 variants and pantothenate-kinase-associated neurodegeneration in the Dominican Republic.
Brain communicationsExtraocular features of Leber hereditary optic neuropathy: A scoping review.
Journal of biological methodsCase report of paroxysmal dystonia in a child with KBG syndrome: Expansion of the phenotype and utility of whole exome sequencing.
MedicineAtypical neuroaxonal dystrophy in childhood related to PLA2G6: a French cohort.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyRapid-onset dystonia-parkinsonism: First African case of ATP1A3 mutation.
Parkinsonism & related disordersFBXO7 Pathogenic Variants in Early-Onset Parkinsonism: Insights from a Neuroimaging Perspective and Review of the Literature.
Movement disorders clinical practiceNovel Biallelic SQSTM1 Mutation Causing a Subacute-Onset Complex Movement Disorder with Oculomotor Abnormalities.
Movement disorders clinical practicePediatric Genetic Dystonias: Current Diagnostic Approaches and Treatment Options.
Life (Basel, Switzerland)Gene editing for Spinocerebellar ataxia type 3 taking advantage of the human ATXN3L paralog as replacement gene.
Gene therapyDeep Brain Stimulation in Leigh-Like Syndrome Due to DNM1 Pathogenic Variant.
Tremor and other hyperkinetic movements (New York, N.Y.)SGCE Myoclonus Dystonia: A Case Report.
Ethiopian journal of health sciencesNeurological diagnoses in children potentially fulfilling the criteria for developmental coordination disorder.
Developmental medicine and child neurologyHearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study.
Molecular genetics and metabolismRare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson's Disease.
medRxiv : the preprint server for health sciencesRare Movement Disorders-An Approach for Clinicians.
International journal of molecular sciencesAssessment of neurological symptoms and associated factors in patients with Wilson's disease in Southwest China.
Orphanet journal of rare diseasesGenetic and Clinical Features of SLC2A1-Related Paroxysmal Exercise-Induced Dyskinesia.
Pediatric neurologyA novel TIMM8A mutation in Mohr-Tranebjaerg syndrome without hearing loss and with basal ganglia iron deposition.
Orphanet journal of rare diseasesThe Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.
Annals of neurologyVariant Ataxia-Telangiectasia Presenting as Tremor-Dystonia Syndrome in a Bulgarian Religious Minority.
GenesClinico-genetic profile of case series of six Tamilian chorea-acanthocytosis families with VPS13A mutations from South India.
Parkinsonism & related disordersDynamic electro-clinical features in Guanidinoacetate N-methyltransferase deficiency: A familial case series.
Epilepsia openDeep Brain Stimulation for VPS16-Related Dystonia: A Multicenter Study.
Annals of neurologyGenetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.
Annals of clinical and translational neurologyIdentifying the Fourth Patient With Spastic Paraplegia 90, Extending the Phenotype Spectrum.
Clinical geneticsCLCN2-related leukoencephalopathy with ataxia (LKPAT) and dystonia in two unrelated Indian patients.
Parkinsonism & related disordersADCY5-Mosaic Variants: A Diagnosis Not to Be Missed.
Movement disorders clinical practicePhenotypic Diversity in Stress-induced Childhood-Onset Neurodegeneration with Variable Ataxia and Seizures: Novel Associations with Parkinsonism, Icthyosis and Cataract.
Cerebellum (London, England)High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single-Center Neurogenetics Clinic.
Movement disorders clinical practiceThe organizational dimension in rare and complex diseases care management: an application of RarERN Path© methodology in ataxias, dystonia and phenylketonuria.
BMC health services researchNeurodegeneration, Intracranial Calcifications, Microcephaly and Drug-Resistant Epilepsy Caused by a Novel Homozygous Missense Variant in the NRROS Gene: A Case Report.
International medical case reports journalEAST syndrome: when the nephrologist calls the neurologist.
Practical neurologyParkinsonism and Dystonia Are Prevalent and Concomitant Movement Disorders in a Cohort of Patients with Rett Syndrome.
Movement disorders clinical practiceDopa-responsive dystonia and phenotypes associated with TH gene variants: a systematic review and Mexican case series.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyPontocerebellar Hypoplasia Type 1 and Associated Neuronopathies.
GenesNovel CYFIP2 Frameshift Variant Linked to Dyskinetic Crises: Functional Studies Show Impaired Cell Motility.
Clinical geneticsNeuromelanosis masquerading as tubercular bacterial meningitis.
BMJ case reportsStatus Dystonicus in Children: Is it more Common than we Realize?
Movement disorders clinical practiceAlternating hemiplegia of childhood associated mutations in Atp1a3 reveal diverse neurological alterations in mice.
Neurobiology of diseaseDevelopment and Preliminary Validation of a Parkinsonism-Dystonia Scale for Infants and Young Children.
Movement disorders : official journal of the Movement Disorder SocietyGenotype-Phenotype Relations for the Dystonia-Parkinsonism Genes GLB1, SLC6A3, SLC30A10, SLC39A14, and PLA2G6: MDSGene Systematic Review.
International journal of molecular sciencesAberrant outputs of glutamatergic neurons in deep cerebellar nuclei mediate dystonic movements.
Science advancesKIF5A variant in familial dystonia: A clinicogenetic study of a large Roma kindred.
Parkinsonism & related disordersNovel SPR mutation in first Chinese patient with sepiapterin reductase deficiency: urinary biomarker validation in oldest treated case.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyDe Novo Variants in Siblings: A Rare Occurrence of Two Unrelated Pathogenic Mutations.
Movement disorders clinical practicePearls & Oy-sters: ADCY5-Related Dyskinesia: From a Longstanding Misdiagnosis of Drug-Resistant Epilepsy.
NeurologyA comparative exploration of monoamine neurotransmitter transport disorders: mechanisms, clinical manifestations, and therapeutic approaches.
Journal of medicine and lifeGlutaric aciduria type-1 in a teenager with nutritional vitamin B12 deficiency: coexistence of two treatable conditions.
BMJ case reportsThe Rare Syndrome Aicardi-Goutières 4: A Case Report and Literature Review.
Developmental neurobiologyBiallelic Variants in AFG3L2 Causing Spastic Ataxia Type 5 (SPAX5): Report of Two Pediatric Cases from Bogotá, Colombia.
Movement disorders clinical practiceUnusual Phenotypic Variability in Paroxysmal Dystonia Associated with Rare ATP1A3 Mutation: A Case Report and Review.
Journal of child neurologyEfficacy of deep brain stimulation in treating monogenic dystonia symptoms: protocol for a systematic review.
BMJ openExpanding the Clinical and Genetic Spectrum of Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency: Insights From Two Unrelated Chinese Families.
Molecular genetics & genomic medicineSystemic Primary Carnitine Deficiency Presenting With Substantia Nigra and Basal Ganglia Injury: A Case Report.
JIMD reportsAdult-Onset Bilateral Optic Neuropathy in a Patient with Non-Familial Childhood-Onset Generalized Dystonia Associated with Mitochondrial DNA 14459G>A Mutation: A Case Report and Review of Literature.
Neuro-ophthalmology (Aeolus Press)The wide phenotypic spectrum of thiamine metabolism dysfunction syndrome 5 and its treatment.
Orphanet journal of rare diseasesParoxysmal Kinesigenic Dyskinesia in Two Siblings With Novel Heterozygous TMEM151A Frameshift Variant: The First Case Report in Japan.
American journal of medical genetics. Part ADelayed Diagnosis of Aicardi-Goutières Syndrome in a 10-Year-Old Female Child With TREX1 Mutation: A Case Report.
CureusDopa responsive dystonia due to a GCH1 gene variant mimicking hereditary spastic paraparesis.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyCorrigendum to "Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders" [Parkinson. Relat. Disord. (2025) 133 107319].
Parkinsonism & related disordersInsights on the Shared Genetic Landscape of Neurodevelopmental and Movement Disorders.
Current neurology and neuroscience reportsCase report: Whole exome sequencing identifies a novel variant in the HPRT1 gene in a male with developmental delay.
Frontiers in geneticsTOR1AIP2 as a candidate gene for dystonia-hemichorea/hemiballism.
Parkinsonism & related disordersPatients with Allan-Herndon-Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment.
Movement disorders : official journal of the Movement Disorder SocietyApproach to Myoclonus Dystonia Syndrome: A European Reference Network Survey.
Movement disorders clinical practiceTreatment Efficacy of Theophylline in ADCY5-Related Dyskinesia: A Retrospective Case Series Study.
Movement disorders : official journal of the Movement Disorder SocietyHypermagnesemia with Dystonia Type 2: Case Report of a New SLC30A10 Variant.
Journal of pharmacy & bioallied sciencesGenotype-Phenotype Landscape of NALCN and UNC80-Related Disorders.
NeurologyKMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
ArXivAutoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.
The Lancet. NeurologyA case series of nine patients with cerebrotendinous xanthomatosis from India and a systematized review of Indian literature.
Parkinsonism & related disordersAAV-Mediated Gene Transfer of WDR45 Corrects Neurological Deficits in the Mouse Model of Beta-Propeller Protein-Associated Neurodegeneration.
Human gene therapyCommentary on "Atypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystonia".
Parkinsonism & related disordersComplex Multifocal Dystonia, Intellectual Disability, and Stereotypies Due to a Novel DYRK1A Variant.
Movement disorders clinical practiceBiotin Induces Inactive Chromosome X Reactivation and Corrects Physiopathological Alterations in Beta-Propeller-Protein-Associated Neurodegeneration.
International journal of molecular sciencesCombined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Brain : a journal of neurologyMovement Disorders in Hereditary Cerebellar Ataxia.
Movement disorders clinical practiceVariable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders.
Parkinsonism & related disordersPLA2G6-associated Neurodegeneration: A Rare Case Report of Dystonia-Parkinsonism Phenotype with a Novel Genotypic Variant.
The Journal of the Association of Physicians of IndiaClinical spectrum, treatment and outcomes of the m.10197G>A mutation in MT-ND3: a case report, systematic review and meta-analysis.
Orphanet journal of rare diseasesGeneration of an induced pluripotent stem cell line (UCLi026-A) from a patient with ADCY5-related disease carrying the heterozygous variant c.1253G > A; (p. Arg418Gln).
Stem cell researchCase Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination.
Frontiers in pediatricsAtypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystonia.
Parkinsonism & related disordersDeletion of the THAP1 Gene Is Responsible for Typical DYT-THAP1.
Movement disorders clinical practiceA Novel Large Duplication on the X Chromosome as a Cause of Familial Generalized Dystonia: A Case Report.
International journal of molecular sciencesFunctional movement disorders in dopa-responsive dystonia.
Parkinsonism & related disordersNeuronal ceroid lipofuscinosis 11 (CLN11) presenting with early-onset cone-rod dystrophy and learning difficulties.
NeurogeneticsGenomic characterization of Huntington's disease genetic modifiers informs drug target tractability.
Brain communicationsDystonia caused by ANO3 variants is due to attenuated Ca2+ influx by ORAI1.
BMC medicineStudying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic.
BiomedicinesBaricitinib Treatment in RNU7-1-Associated Aicardi-Goutières Syndrome in a South African Child: A Case Report.
American journal of medical genetics. Part A[A case of rare hereditary Siddiqi syndrome with novel neuropsychiatric signs].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaChallenges in Describing Tremor and Dystonia.
NeurologyATP1A3-Associated Paroxysmal Dystonia.
Tremor and other hyperkinetic movements (New York, N.Y.)Natural history of SGCE-associated myoclonus dystonia in children and adolescents.
Developmental medicine and child neurologyRare Spinocerebellar Ataxia Types in Canada: A Case Series and Review of the Literature.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesNovel compound heterozygous P4HTM variants in a girl with developmental and epileptic encephalopathy: First case report of P4HTM variant-associated epileptic encephalopathy.
SeizureA therapeutic approach to pantothenate kinase associated neurodegeneration: a pilot study.
Orphanet journal of rare diseasesNovel mouse model of alternating hemiplegia of childhood exhibits prominent motor and seizure phenotypes.
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A condição é causada por alterações genéticas hereditárias no genoma do paciente. Diversos genes estão associados a esse grupo clínico, como TMEM151A, THAP1, TUBB4A, CACNA1A e VPS16.
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.). Distonia genética rara. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/distonia-genetica-rara
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Distonia genética rara
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