Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp

Vasiliki Koukouni, Enza Maria Valente, Carla Cordivari, Kailash P. Bhatia, Niall P. Quinn

Research output: Contribution to journalArticle

Abstract

Inherited myoclonus dystonia (M-D, DYT11) is an autosomal dominant dystonia-plus syndrome, which in many families is caused by mutations in the SGCE/(epsilon-sarcoglycan gene. We present a family with M-D, with an unusual presentation characterized by infantile onset with falls in two sisters and adult-onset writer's cramp in their father. Myoclonus dystonia is typically characterized by a variable mixture of alcohol-sensitive myoclonic jerks and dystonia classically affecting mainly the proximal arms and neck. Leg involvement is less frequent, and to our knowledge, initial presentation with falls has not previously been described. The unusual phenotype of the family is discussed.

Original languageEnglish
Pages (from-to)1913-1915
Number of pages3
JournalMovement Disorders
Volume23
Issue number13
DOIs
Publication statusPublished - Oct 15 2008

Keywords

  • Epsilon-sarcoglycan
  • Falls
  • Myoclonus dystonia
  • Writer's cramp

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Fingerprint Dive into the research topics of 'Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp'. Together they form a unique fingerprint.

  • Cite this