Characterizing muscle atrophy in distal hereditary motor neuropathy


  • Muscle magnetic resonance imaging (MRI) abnormalities are common in people with distal hereditary motor neuropathies (dHMN), with the most frequently affected muscles being the soleus, tibialis anterior and thenar eminence.

Why this matters

  • dHMN are commonly associated with heterozygous BSCL2 mutations, including the p.N88S mutation.

  • Muscle-MRI may provide insights into the development and progression of dHMN, and if properly characterized, be used to assess therapeutic responses in hereditary neuropathies.