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GTR Home > Conditions/Phenotypes > Myoclonic dystonia 11

Myoclonic dystonia 11

Synonyms
DYT-SGCE; Dystonia 11; Dystonia, alcohol responsive; Hereditary essential myoclonus; Myoclonic dystonia; Myoclonus-Dystonia

Summary

Excerpted from the GeneReview: SGCE Myoclonus-Dystonia
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). The myoclonic jerks typical of SGCE-M-D most often affect the neck, trunk, and upper limbs with less common involvement of the legs. Approximately 50% of affected individuals have additional focal or segmental dystonia, presenting as cervical dystonia and/or writer's cramp. Non-motor features may include alcohol abuse, obsessive-compulsive disorder (OCD), and anxiety disorders. Symptom onset is usually in the first decade of life and almost always by age 20 years, but ranges from age six months to 80 years. Most affected adults report a dramatic reduction in myoclonus in response to alcohol ingestion. SGCE-M-D is compatible with an active life of normal span.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Deborah Raymond
Rachel Saunders-Pullman
Laurie Ozelius
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Available tests

42 tests are in the database for this condition.

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Clinical tests (42 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DYT11, ESG, epsilon-SG, SGCE
    Summary: sarcoglycan epsilon

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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