Myoclonus-dystonia (M-D) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions that are often responsive to alcohol. Myoclonic movements of the arms and axial muscles are associated with dystonic movements of the neck and arms in more than 50% of the patients. The mode of inheritance is autosomal dominant with variable severity and incomplete penetrance. Laboratory screening including EEG and SSEP are normal in most cases. 1 Changes in personality as well as obsessive compulsive disorder, panic syndrome, alcoholism, and other psychiatric disorders may be associated with M-D. 2 An association with epilepsy has also been described. 3,4 Mutations of the ε-sarcoglycan gene (SGCE) were reported in some M-D families. 5 M-D has reduced penetrance and most of the patients express the disease when the mutant allele is inherited from their fathers, which is consistent with the suggestion of maternal imprinting of this gene. 6 Furthermore, single variants of the dopamine D2-receptor gene (DRD2) and DYT1 genes were found in combination with SGCE mutations and a second locus was mapped on chromosome 18. 7,8 We screened two Brazilian M-D patients for SGCE mutations and identified an SGCE mutation in each (including a novel de novo mutation). To our knowledge, these are the first SGCE mutations described in Brazil.