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myoclonus-dystonia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myoclonus-dystonia syndrome

MONDO:0000903

Also known as:DYT-SGCEdystonia with myoclonushereditary essential myoclonus

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Overview

Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.

Clinical Trials1 registered · 1 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

SGCE myoclonus-dystonia (SGCE-M-D) is a movement disorder characterized by a combination of rapid, brief muscle contractions (myoclonus), and/or sustained twisting and repetitive movements that result in abnormal postures (dystonia). Onset is most often in the first decade of life or in adolescence. While most affected adults report a dramatic response of myoclonus to ingestion of alcohol , the alleviation of findings following alcohol ingestion varies within and between families. Alcohol dependence may be a comorbidity in those who do respond. The myoclonic jerks typical of SGCE-M-D are brief, lightning-like movements most often affecting the neck, trunk, and upper limbs, with legs less prominently affected. In children, leg and trunk myoclonus may in rare cases lead to falls .

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

SGCE myoclonus-dystonia (SGCE-M-D) should be suspected in individuals with myoclonus alone or with dystonia that begins in the first or second decade of life. It less frequently presents with isolated dystonia. Recently suggested criteria for the diagnosis of M-D require four major criteria and no exclusionary criteria OR three major criteria, two minor criteria, and no exclusionary criteria .

Major criteria

Myoclonus isolated or predominating over dystonia

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for myoclonus-dystonia syndrome. The disease remains an area of unmet medical need.

Gene therapy approaches for myoclonus-dystonia syndrome have been reported in the published literature.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs of an individual diagnosed with SGCE myoclonus-dystonia (SGCE-M-D) the following evaluations (if not performed as part of the evaluation that led to the diagnosis) are recommended:

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 3.

Recommended Surveillance for Individuals with Myoclonus-Dystonia

System/Concern | Evaluation | Frequency

Neurologic

| Neurologic exam to assess burden of myoclonus dystonia review therapy side effects | Annually

Psychiatric

| Eval for psychiatric features | Annually

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

112 publications have been identified in PubMed for myoclonus-dystonia syndrome. Research spans Review / Meta-Analysis (35%), Case Report / Case Series (26%), and Basic Science / Preclinical (15%).

Research Type	Count	% of Total
Research summaries	39	35%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:13 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:36899

GARD

Genetic and Rare Diseases Info Center

GARD:7139

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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GeneReviews

Differential Diagnosis

Myoclonic dystonia 26 (OMIM 616398), associated with heterozygous pathogenic variants in KCTD17, is closest in phenotype to SGCE myoclonus-dystonia (SGCE-M-D). For further information about myoclonic dystonia 26 and other disorders to consider in the differential diagnosis of SGCE-M-D, see . Table 2. Other Genes of Interest in the Differential Diagnosis of SGCE Myoclonus-Dystonia

Gene(s)	DiffDx Disorder	MOI	Key Clinical Features of DiffDx Disorder
ADCY5-related dyskinesia	AD	Possible cause of isolated M-D1; Often childhood onset2	Typically assoc w/addl features (e.g., chorea, early motor delay, alternating hemiplegia of childhood)
ATM	Variant ataxia-telangiectasia3	AR	Dystonia only or dystonia w/myoclonus may be present.
DRPLA	AD	Myoclonus, epilepsy	In children:; Ataxia; Progressive intellectual deterioration In adults:; Ataxia; Choreoathetosis; Dementia or character changes ATP7B
Wilson disease	AR	Dystonia	Biochemical findings: serum copper ceruloplasmin concentrations; urinary copper excretion; Kayser-Fleischer corneal ring ATXN3
Spinocerebellar ataxia type 3	AD	Dystonia in 1 person	Cerebellar ataxia, pyramidal signs, pontocerebellar atrophy CSTB
Unverricht-Lundborg disease	AR	Myoclonus, seizures	Ataxia, incoordination, intentional tremor, dysarthria; Emotional lability, depression, mild in intellectual performance over time EPM2A NHLRC1
Progressive myoclonus epilepsy, Lafora type	AR	Myoclonus, seizures	frequency intractability of seizures; Cognitive decline apparent at or soon after onset of seizures; Dysarthria ataxia appear early; spasticity appears late. GCH1
GTP cyclohydrolase 1-deficient dopa-responsive dystonia	AD	M-D in 1 person4	Dramatic sustained response to levodopa; Typically presents w/gait disturbance, later development of parkinsonism, diurnal fluctuation of symptoms GNB1
GNB1 encephalopathy	AD	M-D in 1 person w/comorbid OCD mild DD,5 neurodevelopmental delay, other features incl dystonia in 46 others6	1 person w/M-D:; Mild ID; Limited upgaze, hypotonia, OCD In others w/dystonia:; Other symptoms may incl genitourinary gastrointestinal abnormality, vision, hearing, cardiac, hematologic abnormalities.
KCTD17	Myoclonic dystonia 26 (OMIM 616398)	AD	Early-onset myoclonic jerks; development of dystonia later in life (in 4 persons)
MERRF	Mat	Myoclonus; seiz...	—

Source: GeneReviews — "SGCE Myoclonus-Dystonia"

Kisho

myoclonus-dystonia syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Neurologic

Psychiatric

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Treatment of Manifestations

Clinical Trials

Recent Publications

myoclonus-dystonia syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Neurologic

Psychiatric

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Treatment of Manifestations

Clinical Trials

Recent Publications