Japanese familial case of myoclonus–dystonia syndrome with a splicing mutation in SGCE. Issue 2 (April 2015)

• Record Type: Journal Article
• Authors: Wada, Takahito; Takano, Kyoko; Tsurusaki, Yoshinori; Miyake, Noriko; Nakashima, Mitsuko; Saitsu, Hirotomo; Matsumoto, Naomichi; Osaka, Hitoshi
• Is Part Of: Pediatrics international. Volume 57:Issue 2(2015)
• Page Start: 324
• Page End: 326
• Publication Date: 2015-04
• Subjects: Pediatrics -- Periodicals; 618.92
• DOI: 10.1111/ped.12613
• Languages: English
• ISSNs: 1328-8067

Abstract

<abstract abstract-type="main"> <title>Abstract</title> <p>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 (<italic>SGCE</italic>). 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 <italic>SGCE</italic> (c.109 + 1 G &gt; T). His father and uncle with the same mutation also experienced milder dystonia or myoclonic movements. <italic>SGCE</italic> 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.</p> </abstract>