Adolescent spinal muscular atrophy with calf hypertrophy and a deletion in the SMN gene

Abstract

Spinal muscular atrophy (SMA) is generally associated with proximal weakness and muscle wasting. An X-linked variant with calf hypertrophy has been reported. We describe a young man with SMA type 4 with prominent calf hypertrophy in whom DNA analysis showed a homozygous deletion of exons 7 and 8 in the telomeric copy of the survival motor neuron gene. Calf hypertrophy may be seen uncommonly in autosomally inherited SMA. © 2008 Wiley Periodicals, Inc.