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myoclonic dystonia; alcohol-responsive dystonia; dystonia-11
Movement disorder characterized by myoclonus & dystonia.
Genetics:
- autosomal dominant inheritance
- associated with defects in DRD2
- associated with defects in SGCE (epsilon-sarcoglycan)
Clinical manifestations:
1) involuntary jerks (myoclonus)
2) dystonia
3) alleviated by alcohol
4) age of onset & myoclonus, dystonia & response to alcohol is variable
Management: see dystonia
General
genetic disease of muscle (inherited myopathy)
dystonia
myoclonus
Database Correlations
OMIM 159900
References
OMIM :accession 159900