A Síndrome de Mioclonia-Distonia (SMD) é uma condição rara que afeta os movimentos, caracterizada por distonia leve a moderada e também espasmos mioclônicos rápidos como um raio.
Introdução
O que você precisa saber de cara
Visão geral
A Síndrome de mioclonia-distonia (identificada pelo CID-10 G24.1 e código MONDO:0000903) é uma condição neurológica rara com prevalência estimada entre 1 e 9 casos por 1.000.000 de pessoas. A apresentação clínica costuma ter início na infância, na adolescência ou na idade adulta, apresentando padrão de herança autossômica dominante ou não aplicável em determinadas apresentações. É caracterizada clinicamente pela associação de distonia leve a moderada com espasmos mioclônicos rápidos.[1][2][3][4]
Sinais e sintomas
As manifestações motoras da síndrome incluem mioclonias, mioclonia de membro, mioclonia espinhal, distonia, distonia axial, distonia do braço, distonia da perna e distonia laríngea. Também são descritos sinais como torcicolo, cãibra do escrivão, blefaroespasmo, tremor, hipotonia, disartria e disfonia.[1][2][3][4]
Além dos sintomas motores, podem ocorrer manifestações comportamentais e psiquiátricas, tais como ansiedade, ataque de pânico, agorafobia, depressão, traço obsessivo-compulsivo, comportamentos compulsivos, transtorno de personalidade e alcoolismo. Laboratorialmente, verificam-se achados como concentração diminuída de ácido homovanílico no LCR e aumento da serotonina sérica.[1][2][3][4]
Causas genéticas
Diagnóstico
A confirmação diagnóstica apoia-se na avaliação clínica e em testes genéticos, contando com 3 testes genéticos catalogados e 127 variantes reportadas no banco de dados ClinVar. No Sistema Único de Saúde (SUS), o procedimento 'Sequenciamento completo do exoma (WES)' consta como parte dos recursos diagnósticos disponíveis na rede pública.[1][5][8][9][10][3][7][4]
Tratamento e manejo
No contexto do SUS, a condição conta com nível de cobertura parcial. O sistema público de saúde contempla o procedimento de 'Atendimento em reabilitação — doenças raras' para suporte multidisciplinar. Atualmente, não há medicamentos formalmente incorporados pela CONITEC para esta indicação nem medicamentos dispensados pelo SUS em lista específica. Na literatura de reposicionamento científico, investiga-se a substância procyclidine.[1][8][9][10][3][6][7][4]
Tratamentos citados na literatura
A literatura científica indexada no PubTator3 registra menções a compostos associados ao estudo da Síndrome de mioclonia-distonia. Trata-se exclusivamente de mapeamento bibliográfico e contagem de publicações, não constituindo recomendação médica ou indicação formal de uso: Alcohols (9 publicações), Clonazepam (7 publicações), Levodopa (7 publicações), Valproic Acid (4 publicações), Zonisamide (4 publicações), Benztropine (3 publicações), Dopamine (2 publicações), Glucose (2 publicações), Carbamazepine (2 publicações) e Ethanol (2 publicações).[8]
Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.
A Síndrome de mioclonia-distonia é uma doença rara que provoca contrações musculares involuntárias associadas a espasmos rápidos semelhantes a choques. As manifestações costumam ser percebidas na infância ou juventude, afetando frequentemente a postura, a escrita, os braços e o pescoço, além de poder envolver ansiedade ou depressão. A condição tem causa genética associada a alterações em genes como o SGCE, com padrão de transmissão familiar autossômico dominante. No SUS, não existem remédios específicos dispensados para a condição, mas estão previstos exames genéticos como o exoma e procedimentos de reabilitação física.
A Síndrome de Mioclonia-Distonia (SMD) é uma condição rara que afeta os movimentos, caracterizada por distonia leve a moderada e também espasmos mioclônicos rápidos como um raio.
O que está sendo pesquisado
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 8 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 25 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
5 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Not applicable.
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 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.
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.
Medicamentos e terapias
Mecanismo: Sodium channel alpha subunit blocker
Variantes genéticas (ClinVar)
127 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 2 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
3 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 — Síndrome de mioclonia-distonia
Selecione um estado ou use sua localização para ver resultados.
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
Ensaios em destaque
Nenhum país com ensaio aberto no momento.
Pesquisa e ensaios clínicos
3 ensaios clínicos encontrados.
Publicações mais relevantes
Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant.
Myoclonus-dystonia syndrome (MDS) is an autosomal dominant movement disorder most caused by pathogenic variants in SGCE, an imprinted gene subject to maternal silencing. While numerous pathogenic variants have been reported, the extent and determinants of intrafamilial variability remain incompletely understood. We investigated a large French family in which ten individuals across three generations presented with myoclonic jerks, dystonia, or combined phenotypes. Trio whole-exome sequencing performed in the proband, her affected brother, and her affected father identified a heterozygous SGCE variant, NM_003919.3:c.406T > G, predicting a p.Cys136Gly substitution in a highly conserved cysteine-rich extracellular domain of ε-sarcoglycan. The variant segregated with disease in all clinically affected individuals for whom DNA was available and was absent from population databases. The phenotypic spectrum ranged from mild, stress-induced myoclonus in females to early-onset myoclonus with cervical dystonia and alcohol responsiveness in males, consistent with imprinting effects and sex-dependent modifiers. Variant interpretation using ACMG/AMP criteria (PM1, PM2, PM5, PP1-strong, PP2, PP3) supports a pathogenic classification. This previously unreported SGCE missense variant expands the mutational spectrum of MDS and further illustrates the substantial intrafamilial variability of SGCE-related disease.
Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant.
Myoclonus-dystonia syndrome (MDS) is an autosomal dominant movement disorder most caused by pathogenic variants in SGCE, an imprinted gene subject to maternal silencing. While numerous pathogenic variants have been reported, the extent and determinants of intrafamilial variability remain incompletely understood. We investigated a large French family in which ten individuals across three generations presented with myoclonic jerks, dystonia, or combined phenotypes. Trio whole-exome sequencing performed in the proband, her affected brother, and her affected father identified a heterozygous SGCE variant, NM_003919.3:c.406T > G, predicting a p.Cys136Gly substitution in a highly conserved cysteine-rich extracellular domain of ε-sarcoglycan. The variant segregated with disease in all clinically affected individuals for whom DNA was available and was absent from population databases. The phenotypic spectrum ranged from mild, stress-induced myoclonus in females to early-onset myoclonus with cervical dystonia and alcohol responsiveness in males, consistent with imprinting effects and sex-dependent modifiers. Variant interpretation using ACMG/AMP criteria (PM1, PM2, PM5, PP1-strong, PP2, PP3) supports a pathogenic classification. This previously unreported SGCE missense variant expands the mutational spectrum of MDS and further illustrates the substantial intrafamilial variability of SGCE-related disease.
Long-Term Efficacy of Bilateral Globus Pallidus Internus Deep Brain Stimulation in Myoclonus-Dystonia Associated with KCNN2 Gene Mutation: A Case Study.
Dystonia-myoclonus syndrome is a rare neurological condition characterized by involuntary muscle contractions and myoclonic jerks, significantly impairing daily functioning. Pharmacological management is often ineffective, prompting consideration of alternative therapeutic interventions such as deep brain stimulation (DBS). This report describes a novel clinical case involving a 38-year-old female with severe dystonic and myoclonic symptoms associated with a pathogenic mutation in the KCNN2 gene (DYT34). Bilateral DBS targeting the internal segment of the globus pallidus (GPi) resulted in marked and sustained symptom improvement, notably reducing dystonic posturing and myoclonic movements over the 24-month follow-up period. Neuropsychological and neurologopedic assessments revealed no adverse effects on cognition or speech. This represents the first sufficient effect of GPi-DBS in a patient with a genetically confirmed KCNN2 mutation, highlighting its potential efficacy and underscoring the need for genetic testing in patients presenting with dystonia-myoclonus syndromes.
Developmental and Epileptic Encephalopathy as a Novel Clinical Hallmark of SCA21.
Spinocerebellar ataxia-21 (SCA21) is an autosomal dominant neurodegenerative disorder due to pathogenic variants of the TMEM240 gene. Its clinical presentation usually includes slowly progressive cerebellar ataxia, myoclonus-dystonia syndrome, cognitive impairment, and behavioral problems. Here, we reported the first patient with SCA21 presenting with a developmental and epileptic encephalopathy with seizure onset during late childhood, a seizure semeiology including atonic, clonic, myoclonic seizures, and absences with eyelid myoclonia and an EEG pattern characterized by diffuse spike and wave discharges. Epilepsy was associated with a progressive motor deterioration (the International Cooperative Ataxia Rating Scale-ICARS Total Ataxia score switched from 23/100 to 35/100 over a period of 2 years), a worsening of a preexisting tremor, and a disabling drowsiness. Nonverbal measure of intellectual functioning revealed a moderate intellectual disability (Leiter-R: brief IQ 40; fluid reasoning 52). The epileptogenic mechanisms involving TMEM240 might be correlated with disinhibition of excitotoxic networks due to the loss of Purkinje cells in the cerebellum, but also damage in neuronal bioenergetic pathways and synaptic vesicular trafficking within cortico-cerebellar and thalamo-cerebellar circuits.
Developmental variability in paediatric SGCE-related myoclonus dystonia syndrome.
This commentary is on the original article by De Francesch et al. on pages 740–749 of this issue.
Publicações recentes
Beyond SGCE: expanding the clinical and molecular spectrum of KCTD17- and KCNN2-related myoclonus-dystonia.
Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant.
Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant.
Infantile Epsilon-Sarcoglycan (SGCE) Myoclonus-Dystonia: Diagnostic Pitfalls and Poor Response to Pharmacologic Treatment.
Long-Term Efficacy of Bilateral Globus Pallidus Internus Deep Brain Stimulation in Myoclonus-Dystonia Associated with KCNN2 Gene Mutation: A Case Study.
📚 EuropePMC66 artigos no totalmostrando 54
Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant.
European journal of medical geneticsInfantile Epsilon-Sarcoglycan (SGCE) Myoclonus-Dystonia: Diagnostic Pitfalls and Poor Response to Pharmacologic Treatment.
CureusLong-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 sciencesDevelopmental and Epileptic Encephalopathy as a Novel Clinical Hallmark of SCA21.
NeuropediatricsApproach to Myoclonus Dystonia Syndrome: A European Reference Network Survey.
Movement disorders clinical practiceMyoclonic status epilepticus with dystonia-like symptoms in patients with dementia: Report of two cases.
Epilepsy & behavior reportsDevelopmental variability in paediatric SGCE-related myoclonus dystonia syndrome.
Developmental medicine and child neurologySodium Oxybate-Treated Familial Myoclonus-Dystonia Syndrome Due to Novel SGCE Variant.
American journal of medical genetics. Part ANatural history of SGCE-associated myoclonus dystonia in children and adolescents.
Developmental medicine and child neurologyBilateral globus pallidus internus-deep brain stimulation in a 5-year-old boy with SGCE-related myoclonus dystonia syndrome.
Pediatric investigationMyoclonus-Dystonia Plus Syndrome With Early-Onset Multiple Cerebral Cavernous Malformation Type 1 and Growth Hormone Deficiency Associated With Novel 7q21.13-q21.3 Deletion: A Pediatric Case Report.
CureusImprovement in Myoclonus-Dystonia Syndrome during Treatment with Gonadotropin-Releasing Hormone Agonist.
Movement disorders clinical practiceThe expanding genetic landscape of myoclonus-dystonia syndrome: YY1 and ATP1A3 are added to the list.
Parkinsonism & related disordersDeep Brain Stimulation for an Unusual Presentation of Myoclonus Dystonia Associated with Russell-Silver Syndrome.
Tremor and other hyperkinetic movements (New York, N.Y.)Two-Generation Epsilon-Sarcoglycan Gene (SGCE) Mutation-Associated Myoclonus-Dystonia (DYT-SGCE) Misdiagnosed as Tourette's Syndrome: A Case Series.
CureusCase report: Unilateral GPi DBS in secondary myoclonus-dystonia syndrome after acute disseminated encephalomyelitis.
Frontiers in neurologyTranslating Genetic Discovery into a Mechanistic Understanding of Pediatric Movement Disorders: Lessons from Genetic Dystonias and Related Disorders.
Advanced genetics (Hoboken, N.J.)Perampanel as a novel treatment for subcortical myoclonus in myoclonus-dystonia syndrome.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyPearls & Oy-sters: SCA21 Due to TMEM240 Variation Presenting as Myoclonus Dystonia Syndrome.
NeurologyEffect of the R126C mutation on the structure and function of the glucose transporter GLUT1: A molecular dynamics simulation study.
Journal of molecular graphics & modellingA Case Report of Siblings with Dystonia: A Potential Link Between DYT11 Mutation and Platelet Dysfunction.
Neurology IndiaKCNN2 Mutation in Pediatric Tremor Myoclonus Dystonia Syndrome with Electrophysiological Evaluation.
Tremor and other hyperkinetic movements (New York, N.Y.)Bilateral Pallidal Stimulation in a Family With Myoclonus Dystonia Syndrome Due to a Mutation in the Sarcoglycan Gene.
Neuromodulation : journal of the International Neuromodulation SocietyMutation in ε-Sarcoglycan Induces a Myoclonus-Dystonia Syndrome-Like Movement Disorder in Mice.
Neuroscience bulletinSuccessful Unilateral Surgical Approach to Internal Globus Pallidus and Ventral Intermediate Nucleus of the Thalamus in 3 Cases of Myoclonus-Dystonia Syndrome.
Stereotactic and functional neurosurgeryDelineating the motor phenotype of SGCE-myoclonus dystonia syndrome.
Parkinsonism & related disordersKCTD17-related myoclonus-dystonia syndrome: clinical and electrophysiological findings of a patient with atypical late onset.
Parkinsonism & related disorders[Clinical and genetic analysis of childhood-onset myoclonus dystonia syndrome caused by SGCE variants].
Zhonghua er ke za zhi = Chinese journal of pediatricsClinical phenotype heterogeneity in a family with ε-sarcoglycan gene mutation.
Neurologia i neurochirurgia polskaDeep brain stimulation for myoclonus dystonia syndrome: a meta-analysis with individual patient data.
Neurosurgical reviewA South African family with myoclonus-dystonia syndrome with a novel mutation in the SGCE gene responding to deep brain stimulation.
Parkinsonism & related disordersA Novel SGCE Nonsense Variant Associated With Marked Intrafamilial Variability in a Turkish Family With Myoclonus-Dystonia.
Movement disorders clinical practiceA retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016.
European journal of human genetics : EJHGScreening for SGCE mutations in Moroccan sporadic patients with Myoclonus-Dystonia syndrome.
Neuroscience lettersAdult-Onset Myoclonus-Dystonia Syndrome Preceding Characteristic Facial Myoclonus in Indian ADCY5-related Dyskinesia.
Movement disorders clinical practiceThalamus Stimulation for Myoclonus Dystonia Syndrome: Five Cases and Long-Term Follow-up.
World neurosurgeryDelineating cerebellar mechanisms in DYT11 myoclonus-dystonia.
Movement disorders : official journal of the Movement Disorder SocietyFrameless robot-assisted pallidal deep brain stimulation surgery in pediatric patients with movement disorders: precision and short-term clinical results.
Journal of neurosurgery. PediatricsNovel SGCE mutation in a patient with myoclonus-dystonia syndrome - Diagnostic delay of more than 40 years.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia[Parasomnia and paroxysmal dyskinesia].
Der NervenarztPsychiatric symptoms in myoclonus-dystonia syndrome are just concomitant features regardless of the SGCE gene mutation.
Parkinsonism & related disordersDeep brain stimulation for myoclonus-dystonia syndrome with double mutations in DYT1 and DYT11.
Scientific reportsRole of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome.
Neurobiology of diseaseBilateral pallidal deep brain stimulation in myoclonus-dystonia: our experience in three cases and their follow-up.
Acta neurochirurgicaSpeech-activated Myoclonus Mimicking Stuttering in a Patient with Myoclonus-Dystonia Syndrome.
Tremor and other hyperkinetic movements (New York, N.Y.)Deep brain stimulation for the treatment of hyperkinetic movement disorders.
Expert review of neurotherapeuticsEarly deep brain stimulation in patients with myoclonus-dystonia syndrome.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaGenetic Aspects of Myoclonus-Dystonia Syndrome (MDS).
Molecular neurobiologyProgression of neuropsychiatric and cognitive features due to exons 2 to 5 deletion in the epsilon-sarcoglycan gene: a case report.
NeurocaseThe first disease connection for Cav2.2 channels.
General physiology and biophysicsSteroid-responsive autoimmune encephalopathy associated with autoimmune thyroiditis (SREAT) presenting with myoclonus-dystonia syndrome.
Journal of the neurological sciencesJapanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE.
Pediatrics international : official journal of the Japan Pediatric SocietyMyoclonus-dystonia syndrome: case report.
Northern clinics of IstanbulSarcoglycans and gaba(a) receptors in rat central nervous system: an immunohistochemical study.
Italian journal of anatomy and embryology = Archivio italiano di anatomia ed embriologiaAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Síndrome de mioclonia-distonia e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
Existe um documento oficial para "Distonias e Espasmo Hemifacial". Ele pode não cobrir esta forma específica da doença — confira no texto do protocolo antes de contar com ele.
É uma condição rara do movimento caracterizada por distonia leve a moderada acompanhada por espasmos mioclônicos muito rápidos. Ela também é conhecida por nomes como distonia-mioclonia e mioclonia essencial hereditária.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
11 fontes citadas no texto · 7 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. (2026). Síndrome de mioclonia-distonia. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/sindrome-de-mioclonia-distonia
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Síndrome de mioclonia-distonia
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Moléculas estudadas na doença
- fonte: OpenTargets
- Reposicionamento
- fonte: Drug Repurposing Hub
