Hereditary motor and sensory neuropathy type V (HMSN V) is a rare disorder characterized by the clinical features of spastic paraplegia with peroneal muscular atrophy. A patient with progressive deformity of the feet due to HMSN V underwent clinical, electrophysiological, histopathological examinations, and surgical treatments. Physical examination revealed bilateral pes equinovarus and peroneal muscular atrophy with pyramidal tract features. In the lower limbs, motor nerve conduction velocity could not be determined, and sensory nerve conduction velocity was decreased. In contrast, the results of both the conduction studies were normal for the upper limbs. A sural nerve biopsy revealed a decrease in the number of myelinated fibers and in the diameter of the unmyelinated fibers, and axonal and myelin regeneration was found on light and electron microscopic examinations, suggesting an axonopathy. Since the patient had pyramidal tract features, the same pathological changes may be present in the spinal cord. In the surgical treatment to correct deformity of the feet in this patient, triple arthrodesis was necessary.
Peroneal muscular atrophy with pyramidal tract features (hereditary motor and sensory neuropathy type V): a clinical, neurophysiological, and pathological study of a large kindred.
