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Prominent Lower‐Limb Involvement in a Family with Myoclonus‐Dystonia
Author(s) -
Kobylecki Christopher,
Damodaran Dinesh,
Kerr Bronwyn,
Newton Richard W.,
Silverdale Monty A.
Publication year - 2014
Publication title -
movement disorders clinical practice
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.754
H-Index - 18
ISSN - 2330-1619
DOI - 10.1002/mdc3.12022
Subject(s) - dystonia , myoclonus , proband , medicine , physical medicine and rehabilitation , upper limb , lower limb , psychology , neuroscience , mutation , surgery , biology , genetics , gene
We report on a large family with myoclonus‐dystonia resulting from an epsilon‐sarcoglycan mutation, with prominent early and late lower‐limb involvement. The proband's condition has evolved to include marked lower‐limb dystonia and dystonic gait impairment in the fourth decade. Other family members had evidence of prominent lower‐limb involvement at presentation or a more typical phenotype of axial and upper‐limb myoclonus and dystonia. Prominent lower‐limb involvement developing late in the disease course is an atypical feature and exemplifies the wide phenotypic heterogeneity observed in people with myoclonus‐dystonia.