Journal Article Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE.

Wada, Takahito  ,  Takano, Kyoko  ,  Tsurusaki, Yoshinori  ,  Miyake, Noriko  ,  Nakashima, Mitsuko  ,  Saitsu, Hirotomo  ,  Matsumoto, Naomichi  ,  Osaka, Hitoshi

57 ( 2 )  , pp.324 - 326 , 2015-04-03 , wiley
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.

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