myoclonic dystonia

myoclonic dystonia
myoclonus-dystonia dystonia with multifocal myoclonic jerks, generally of the proximal muscles; it may be accompanied by psychiatric disorders. It is genetically heterogeneous, most often caused by mutation in the SGCE gene (locus: 7q21), which encodes ε-sarcoglycan, and onset is in the first or second decade of life. The dystonia is mild and most often involves the neck and upper limbs, usually in the form of torticollis or writer's cramp. Symptoms can be relieved by alcohol consumption, which can lead to alcohol abuse.

Medical dictionary. 2011.

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