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Unusual familial presentation of epsilon‐sarcoglycan gene mutation with falls and writer's cramp
Author(s) -
Koukouni Vasiliki,
Valente Enza Maria,
Cordivari Carla,
Bhatia Kailash P.,
Quinn, Niall P.
Publication year - 2008
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.21935
Subject(s) - dystonia , myoclonus , myoclonic jerk , presentation (obstetrics) , neurological disorder , mutation , medicine , psychology , pediatrics , genetics , neuroscience , gene , central nervous system disease , surgery , biology
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. © 2008 Movement Disorder Society.