Japanese familial case of myoclonus–dystonia syndrome with a splicing mutation in SGCE |
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| Authors: | Takahito Wada Kyoko Takano Yoshinori Tsurusaki Noriko Miyake Mitsuko Nakashima Hirotomo Saitsu Naomichi Matsumoto Hitoshi Osaka |
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| Institution: | 1. Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan;2. Department of Medical Ethics and Medical Genetics, Kyoto University Graduate School of Medicine, Kyoto, Japan;3. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan |
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| 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. |
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| Keywords: | ε ‐sarcoglycan myoclonus– dystonia syndrome SGCE |
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