Atypical manifestations in Charcot-Marie-Tooth disease due to a variant in the GDAP1 gene: A case report

Alfaro-Olivera M.; Flores-Quinteros D.G.; Salcedo A.Á.; Tagle-Lostaunau I.B.; Aquino-Peña E.F.; Sifuentes Monge J.M.; Arias-Hancco V.A.; Escalante Canorio J.L.; Diaz-Manera J.; Töpf A.; Torres Ramirez L. · Neurologia Argentina (2026) · DOI: 10.1016/j.neuarg.2026.100711

Resumen

Charcot-Marie-Tooth disease (CMT) is the most common hereditary neuropathy, characterized by wide genetic and phenotypic variability. We present the case of a 14-year- old Peruvian female with an autosomal recessive axonal motor neuropathy caused by a homozygous missense mutation in exon 6 of the GDAP1 gene (c.928C>T; p.Arg310Trp). The patient showed early-onset progressive distal weakness, quadriparesis, pes valgus, mild scoliosis, and muscle hypotrophy. Atypical clinical findings included upper limb hyperreflexia, finger myokymia, and distal cyanosis in the lower limbs. Electrophysiological studies revealed active denervation and myokymic discharges. The mutation was identified by whole exome sequencing. This case highlights the importance of molecular diagnosis in hereditary neuropathies and expands the phenotypic spectrum associated with GDAP1 , emphasizing the relevance of considering CMT in patients with atypical progressive neuropathies.