myoclonic dystonia; alcohol-responsive dystonia; dystonia-11

Introduction

Movement disorder characterized by myoclonus & dystonia.

Genetics

• autosomal dominant inheritance
• associated with defects in DRD2
• associated with defects in SGCE (epsilon-sarcoglycan)

Clinical manifestations

• involuntary jerks (myoclonus)
• dystonia
• alleviated by alcohol
• age of onset & myoclonus, dystonia & response to alcohol is variable

Management

see dystonia

More general terms

• genetic disease of muscle (inherited myopathy)
• dystonia
• myoclonus

Database

• OMIM: https://mirror.omim.org/entry/159900