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Hypertrophia Musculorum Vera in Familial Ataxia
Philip P. O'Donnell, MD;
Robert T. Leshner, MD;
William W. Campbell, Jr, MD
Arch Neurol. 1986;43(2):146-147.
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.
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).
Footnotes
Accepted for publication May 5, 1985.
Reprint requests to Neurology Service (127), McGuire VAMC, 1201 Broadrock Rd, Richmond, VA 23149 (Dr Campbell).
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