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J apanese familial case of myoclonus–dystonia syndrome with a splicing mutation in SGCE
Author(s) -
Wada Takahito,
Takano Kyoko,
Tsurusaki Yoshinori,
Miyake Noriko,
Nakashima Mitsuko,
Saitsu Hirotomo,
Matsumoto Naomichi,
Osaka Hitoshi
Publication year - 2015
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12613
Subject(s) - myoclonus , dystonia , medicine , myoclonic jerk , mutation , movement disorders , pediatrics , genetics , psychiatry , gene , disease , biology
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.