title: Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE.
abstract: Myoclonus-dystonia syndrome (MDS) is a rare autosomal-dominant movement disorder characterized by brief, frequently alcohol-responsive myoclonic jerks that begin in childhood or early adolescence, caused by mutations in the ε-sarcoglycan gene (SGCE). The patient was a 6-year-old boy. At 2 years 8 months, he had abnormal movement when he ran due to dystonia of his left leg. At 3 years 5 months, he exhibited dystonia and myoclonic movement of his arms when eating. Myoclonus was likely to develop when he felt anxiety or exhaustion. Genomic DNA showed a heterozygous mutation in SGCE (c.109 + 1 G > T). His father and uncle with the same mutation also experienced milder dystonia or myoclonic movements. SGCE mutation can cause a broad range of clinical symptoms between and within families. We should consider MDS as a differential diagnosis for patients with paroxysmal walking abnormalities and/or myoclonic movements.
authors: Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan; Department of Medical Ethics and Medical Genetics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors: Takahito
authors: T
authors: Wada
authors: Kyoko
authors: K
authors: Takano
authors: Yoshinori
authors: Y
authors: Tsurusaki
authors: Noriko
authors: N
authors: Miyake
authors: Mitsuko
authors: M
authors: Nakashima
authors: Hirotomo
authors: H
authors: Saitsu
authors: Naomichi
authors: N
authors: Matsumoto
authors: Hitoshi
authors: H
authors: Osaka
mesh_terms: D044466:Asian People; D002648:Child; D020821:Dystonic Disorders / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D049031:Sarcoglycans / Q000235:genetics*
chemical_list: C526572:SGCE protein, human; D049031:Sarcoglycans
keywords: SGCE; myoclonus-dystonia syndrome; ε-sarcoglycan