Genetic and clinical analysis of distal hereditary motor neuropathies

Takeaway

  • In a genetic assessment of Chinese individuals with distal hereditary motor neuropathies (dHMN), pure motor neuropathies and those with minor sensory involvement share causative genes with Charcot-Marie-Tooth disease (CMT) whereas dHMN with additional neurological deficits has overlapping mutations with motor neuron disease.

Why this matters

    The varying causative genes for dHMN highlights that dHMN is a disease continuum with varying genotypes and phenotypes rather than an individual disease.