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Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with ε-sarcoglycan mutations

✍ Scribed by Deborah Raymond; Rachel Saunders-Pullman; Patricia de Carvalho Aguiar; Birgitt Schule; Norman Kock; Jennifer Friedman; Juliette Harris; Blair Ford; Steven Frucht; Gary A. Heiman; Danna Jennings; Dana Doheny; Mitchell F. Brin; Deborah de Leon Brin; Trisha Multhaupt-Buell; Anthony E. Lang; Roger Kurlan; Christine Klein; Laurie Ozelius; Susan Bressman

Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 70 KB
Volume: 23
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.21785

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✦ Synopsis

Abstract

Myoclonus‐dystonia (M‐D) due to SGCE mutations is characterized by early onset myoclonic jerks, often associated with dystonia. Penetrance is influenced by parental sex, but other sex effects have not been established. In 42 affected individuals from 11 families with identified mutations, we found that sex was highly associated with age at onset regardless of mutation type; the median age onset for girls was 5 years versus 8 years for boys (P < 0.0097). We found no association between mutation type and phenotype. © 2007 Movement Disorder Society

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