dystonia type 11

dystonia type 11

An autosomal dominant (OMIM:159900) myoclonic dystonia (sustained involuntary muscle contractions leading to abnormal postures) specifically characterised by involuntary lightning jerks and dystonic movements and postures, which are alleviated by alcohol. Age of onset, pattern of body involvement, presence of myoclonus and response to alcohol are variable.

Molecular pathology
Defects in SGCE, which encodes epsilon-sarcoglycan, causes dystonia type 11.
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