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- Title
Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE.
- Authors
Wada, Takahito; Takano, Kyoko; Tsurusaki, Yoshinori; Miyake, Noriko; Nakashima, Mitsuko; Saitsu, Hirotomo; Matsumoto, Naomichi; Osaka, Hitoshi
- 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.
- Subjects
JAPAN; MYOCLONUS; SYNDROMES; DYSTONIA; DIFFERENTIAL diagnosis; FAMILIES; GENEALOGY; GENES; GENETIC techniques; GENETIC mutation; DIAGNOSIS
- Publication
Pediatrics International, 2015, Vol 57, Issue 2, p324
- ISSN
1328-8067
- Publication type
Article
- DOI
10.1111/ped.12613