X-linked bulbo-spinal neuronopathy: a family study of three patients.

Abstract
The clinical features of two brothers and one nephew with X-linked recessive bulbospinal neuronopathy are described. The neurophysiological investigations and sural nerve biopsy, previously unreported, confirmed that both motor and sensory nerves are affected. Because of the genetic implications, the importance is stressed of recognising this disorder as a separate entity which should not be classified with the spinal muscular atrophies.