Myoclonic dystonia: the SGCE gene

Mutations in the epsilon-sarcoglycan (SGCE) gene are associated with myoclonic dystonia. Although mutations in two other genes, DRD2 and DYT1, have been associated with myoclonic dystonia the significance is unknown. (Not to be confused with the abbreviation for dopa-responsive dystonia, the DRD2 gene was associated with alcoholism in 1990. The DYT1 gene is associated with early onset generalized dystonia.) Genetic testing for the SGCE mutations may be available through select medical centers