Myoclonus-Dystonia

Myoclonus-Dystonia (M-D, DYT11) is a rare "Dystonia-plus" syndrome characterized by rapid, "lightning-like" myoclonic jerks in addtion to focal or segmental dystonia with predominance in neck and upper limbs.
M-D usually begins in childhood and responds to alcohol intake in most of the cases.

Since the identification of epsilon-sarcolgycan (SGCE) as the major disease gene in M-D (Zimprich et al., 2001), we have identified SGCE mutations in more than 80% of familial M-D cases referred to our lab for genetic testing. Genetic heterogeneity of M-D is underlined by the identification of an additional disease locus on chromosome 18 (DYT15) by Grimes and coworkers.

A causative role of SGCE in the pathogenesis of sporadic Gilles de la Tourette syndrome could be excluded in a cohort of 83 German GTS index patients and both their parents. No exonic SGCE mutations were detected and no evidence for association of the 7q21 region with GTS could be obtained.

At the moment a conditional knock-out of SGCE in mice is generated and the tools for characterization of this mouse model for the human disease are established.

Contact: Friedrich Asmus,MD

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