Clinical and genetic profile of pediatric distal hereditary motor neuropathy

Takeaway

  • The genetic profile of pediatric distal hereditary motor neuropathy (dHMN) differs from that of adult cohorts; in addition, distinct functional limitations have been identified in this cohort via use of the pediatric Charcot-Marie-Tooth Pediatric Scale (CMTPedS).

Why this matters

  • The dHMNs are a genetically heterogenous group of neuropathies with slow, symmetrical degeneration of the distal lower motor neuron; and while candidate etiological genes have been identified in adults, there is a paucity of literature on pediatric dHMN due to the rarity of isolated motor neuropathy in children.

  • Identification of potential candidate genes highlights the need for further research, and possibly clinical trials to enhance understanding of this rare hereditary disorder; with a future aim of therapy development to improve outcomes for pediatric dHMN patients.