Inherited myoclonus dystonia (M-D, DYTH) is an autosomal dominant dystonia-plus syndrome, which in many families is caused by mutations in the SGCE/tepsilon-sarcoglycan gene. We present a family with M-D, with an unusual presentaion 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 myoclonie 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. (C) 2008 Movement Disorder Society

Unusual Familial Presentation of Epsilon-Sarcoglycan Gene Mutation with Falls and Writer's Cramp

VALENTE, ENZA MARIA;
2008-01-01

Abstract

Inherited myoclonus dystonia (M-D, DYTH) is an autosomal dominant dystonia-plus syndrome, which in many families is caused by mutations in the SGCE/tepsilon-sarcoglycan gene. We present a family with M-D, with an unusual presentaion 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 myoclonie 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. (C) 2008 Movement Disorder Society
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/1180538
Citazioni
  • ???jsp.display-item.citation.pmc??? 8
  • Scopus 19
  • ???jsp.display-item.citation.isi??? 14
social impact