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Myoclonus–dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families

✍ Scribed by Nardo Nardocci; Giovanna Zorzi; Chiara Barzaghi; Federica Zibordi; Claudia Ciano; Daniele Ghezzi; Barbara Garavaglia

Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 142 KB
Volume: 23
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.21715

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✦ Synopsis

Abstract

Myoclonus–dystonia syndrome (MDS) is an inherited movement disorder with clinical and genetic heterogeneity. The epsilon sarcoglycan (SGCE) gene is an important cause of MDS. We report the results of a clinical and genetic study of 20 patients from 11 families. We disclosed six novel and two previously described mutations in nine families. The majority of patients had a phenotype of myoclonus and dystonia in combination, but clinical findings considered atypical, such a very early onset, distal myoclonus, and legs involvement, were detected in a significant proportion of cases. The disease course was variable, from progression to spontaneous remission of the motor symptoms. There were no obvious differences between mutation‐positive and ‐negative cases. © 2007 Movement Disorder Society

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