• 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.
O'Donnell PP, Leshner RT, Campbell WW. Hypertrophia Musculorum Vera in Familial Ataxia. Arch Neurol. 1986;43(2):146–147. doi:10.1001/archneur.1986.00520020040015
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: