Multiple pterygium syndrome: neuromuscular findings in a case

A woman with multiple congenital joint deformities and webbing (multiple pterygium syndrome) is described. The electrophysiologic study revealed normal sensory and motor nerve conduction velocities. However, the compound muscle action potential amplitude and the voluntary motor unit size were reduced, suggesting a decrease in the number of muscle fibers. The muscle biopsy was otherwise unremarkable histologically and histochemically. Possible explanations for these findings are discussed.