Neurogenic muscle hypertrophy in type III spinal muscular atrophy

J Neurol Sci. 2011 Sep 15;308(1-2):147-8. doi: 10.1016/j.jns.2011.06.023. Epub 2011 Jul 13.


Neurogenic muscle hypertrophy is very unusual and has been rarely described. We described a 25-year-old woman presented with proximal muscle weakness with calf muscle hypertrophy. Limb magnetic resonance imaging scans showed increased muscle bulk without fatty changes, and a muscle biopsy revealed prominent hypertrophic type II muscle fibers. A mutation in SMN1 was found in a genetic analysis. This is the first report of neurogenic muscle hypertrophy seen in genetically confirmed spinal muscular atrophy III.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Humans
  • Hypertrophy / genetics
  • Hypertrophy / pathology
  • Leg / pathology
  • Muscle Weakness / diagnosis
  • Muscle Weakness / genetics
  • Muscle, Skeletal / pathology*
  • Muscle, Skeletal / physiology
  • Spinal Muscular Atrophies of Childhood / diagnosis*
  • Spinal Muscular Atrophies of Childhood / genetics