The Commonest Childhood Inherited Neuropathy

Investigators from multiple international institutions conducted a prospective study to evaluate the natural history of disease progression in children with Charcot-Marie-Tooth (CMT) disease. Study participants were children 3–20 years old with CMT who were enrolled at 1 of 8 sites of the Inherited Neuropathies Consortium. Participating institutions were in the United States, Australia, and Europe. At enrollment (baseline), demographic information was collected on study children. In addition, CMT genotype was determined. At baseline and 2 years (±6 months) later, participants completed the CMT Pediatric Scale (CMTPedS), a validated 11-item performance-based measure assessing fine and gross motor function, strength, sensation, and balance. Possible CMTPedS scores range from 0–44, with higher scores indicative of more severe disease. Children with CMTPedS scores 0–14 are considered mildly affected, 15–29 …