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

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.

SUBMITTER: Kobylecki C

PROVIDER: S-EPMC6183303 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature

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

Kobylecki Christopher C Damodaran Dinesh D Kerr Bronwyn B Newton Richard W RW Silverdale Monty A MA

Movement disorders clinical practice 20140526 2

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 dis ...[more]

PMID: 30363924

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