Abstract
Inherited myoclonus-dystonia syndrome (MDS) is a rare autosomal-dominant movement disorder characterized by myoclonic jerks and dystonia accompanied with psychiatric manifestations that begin in the first two decades of life. Mutations in epsilon-sarcoglycan (SGCE) gene which encodes the SGCE protein represent a major genetic cause of MDS. We report a sporadic MDS case with abnormal movements including myoclonus and dystonic symptoms affecting the upper body then the neck. In addition, obsessive compulsive disorder (OCD) was observed. This heterogeneous phenotype was shown to be associated with a novel heterozygous mutation within the exon 6 of SGCE gene (c.812G>T).
Published Version
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