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

Muscle Nerve. 2008 Jul;38(1):930-2. doi: 10.1002/mus.21013.

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Cyclic AMP Response Element-Binding Protein / genetics*
  • DNA / biosynthesis
  • DNA / genetics
  • Exons
  • Gene Deletion
  • Humans
  • Hypertrophy
  • Leg / pathology*
  • Male
  • Muscle Weakness / etiology
  • Nerve Tissue Proteins / genetics*
  • RNA-Binding Proteins / genetics*
  • SMN Complex Proteins
  • Spinal Muscular Atrophies of Childhood / genetics*
  • Spinal Muscular Atrophies of Childhood / pathology*

Substances

  • Cyclic AMP Response Element-Binding Protein
  • Nerve Tissue Proteins
  • RNA-Binding Proteins
  • SMN Complex Proteins
  • DNA