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Myoclonus–dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families
Author(s) -
Nardocci Nardo,
Zorzi Giovanna,
Barzaghi Chiara,
Zibordi Federica,
Ciano Claudia,
Ghezzi Daniele,
Garavaglia Barbara
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.21715
Subject(s) - myoclonus , dystonia , disease , medicine , pediatrics , age of onset , movement disorders , degenerative disease , neurological disorder , psychology , central nervous system disease , psychiatry
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