Length-dependent degeneration of lower limb muscles in Charcot-Marie-Tooth type 1A

Takeaway

  • Muscle fatty degeneration in lower limb muscles of individuals with Charcot-Marie-Tooth (CMT) type 1A (CMT1A) disease is characterized by a length-dependent peroneal-type pattern, with significant correlation between fat fraction and clinical variables.

Why this matters

    Quantitative magnetic resonance imaging (MRI) measurements of muscle fat infiltration at different levels of the leg muscle compartments may provide clinical value and help improve disease assessment both in clinical practice and in trials of CMT.