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Mov Disord Clin Pract. 2014 May 26;1(2):115-117. doi: 10.1002/mdc3.12022. eCollection 2014 Jun.

Prominent Lower-Limb Involvement in a Family with Myoclonus-Dystonia.

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Department of Neurology Greater Manchester Neurosciences Center Salford Royal NHS Foundation Trust Salford United Kingdom.
Center for Clinical and Cognitive Neurosciences Institute of Brain Behavior and Mental Health University of Manchester Manchester United Kingdom.
Genetic Medicine Central Manchester Foundation NHS Trust Manchester United Kingdom.
Department of Pediatric Neurology Royal Manchester Children's Hospital Central Manchester Foundation NHS Trust Manchester United Kingdom.


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.


epsilon‐sarcoglycan; gait disorder; myoclonus‐dystonia

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