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Article
February 1986

Hypertrophia Musculorum Vera in Familial Ataxia

Author Affiliations

From the Department of Neurology, Medical College of Virginia, Richmond (Drs O'Donnell, Leshner, and Campbell); and the Neurology Service, McGuire Veterans Administration Medical Center, Richmond (Dr Campbell).

Arch Neurol. 1986;43(2):146-147. doi:10.1001/archneur.1986.00520020040015
Abstract

• A kindred with dominantly inherited ataxia demonstrated hypertrophia musculorum vera as a phenotypic feature of the disease. The proband had fasciculations, cramps, absent sensory nerve action potentials, an increased creatine kinase level, dramatic enlargement of calf muscles, and a muscle biopsy specimen showing denervation accompanied by true muscle fiber hypertrophy; ataxia and other clinical signs of spinocerebellar degeneration were also present. Other family members displayed progressive ataxia and calf muscle enlargement to varying degrees. Though peroneal atrophy is a more common feature of the familial ataxias, some kindreds may have muscle enlargement simulating the pseudohypertrophy of muscular dystrophy that is due instead to denervationinduced compensatory individual fiber hypertrophy.

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