Essential myoclonus-dystonia is a neurological condition characterized by myoclonic and dystonic muscle contractions and the absence of other neurological signs or laboratory abnormalities; it is often responsive to alcohol. The disorder may be familial with apparent autosomal dominant inheritance. We report a large kindred with essential familial myoclonus- dystonia and map a locus for the disorder to a 28-cM region of chromosome 7q21-q31.
|Journal||Annals of Neurology|
|Number of pages||5|
|Publication status||Published - 17.11.1999|