Neurogenic muscle hypertrophy in Type III spinal muscular atrophy

作者：Oh Jeeyoung; Kim Seung Min; Shim Dong Seok; Sunwoo Il Nam^*

来源：Journal of the Neurological Sciences, 2011, 308(1-2): 147-148.

DOI：10.1016/j.jns.2011.06.023

• Neurogenic hypertrophy
• Spinal muscular atrophy
• Muscle hypertrophy

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.

• 出版日期2011-9-15