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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.

Author information

1
Department of Neurology Greater Manchester Neurosciences Center Salford Royal NHS Foundation Trust Salford United Kingdom.
2
Center for Clinical and Cognitive Neurosciences Institute of Brain Behavior and Mental Health University of Manchester Manchester United Kingdom.
3
Genetic Medicine Central Manchester Foundation NHS Trust Manchester United Kingdom.
4
Department of Pediatric Neurology Royal Manchester Children's Hospital Central Manchester Foundation NHS Trust Manchester United Kingdom.

Abstract

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.

KEYWORDS:

epsilon‐sarcoglycan; gait disorder; myoclonus‐dystonia

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