Myoclonus-dystonia (M-D, formerly known as 'Hereditary essential myoclonus') is a rare movement disorder characterized by myoclonic jerks and dystonic movements or postures. M-D has an autosomal dominant inheritance with reduced penetrance because of maternal imprinting and is caused by mutations in the ε-sarcoglycan gene (SGCE) on chromosome 7q21.
|Title of host publication||Encyclopedia of Movement Disorders|
|Publication status||Published - 2010|
|Name||Encyclopedia of Movement Disorders|