dystonia 11—myoclonic

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dystonia 11—myoclonic2016-11-25T19:05:34+00:00

dystonia 11—myoclonic

NEUROLOGY

An autosomal dominant (OMIM:159900) neuromuscular disorder characterised by involuntary lightning jerks, dystonic movements and postures alleviated by alcohol. The 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, cause dystonia 11—myoclonic. 

Synonyms Alcohol-responsive dystonia, DYT11, hereditary essential myoclonus 

References http://www.omim.org/entry/159900

http://www.uniprot.org/uniprot/P14416

 

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