C201596Level 9
Dystonia 11, Myoclonic
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal dominant condition caused by mutation(s) in the SGCE gene, encoding epsilon-sarcoglycan. It is characterized by myoclonus of the proximal muscles and dystonia.
**Synonyms:** - DYT11 - MDS - Myoclonic Dystonia 11 - Myoclonus-Dystonia Syndrome
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