[Clinical pattern and evolution of Charcot-Marie-Tooth disease in pediatrics]

Pediatric Charcot-Marie-Tooth (CMT) disease comprises a heterogeneous group of inherited peripheral nervous system neuropathies that manifest during childhood or adolescence. Clinically, it is characterized by progressive distal muscle weakness, atrophy, areflexia, sensory impairment, and orthopedic deformities such as pes cavus or scoliosis. In early-onset cases, hypotonia, motor delay, and limited independent ambulation may be observed. From a genetic perspective, the most frequent subtypes in the pediatric population include PMP22 duplication (CMT1A), mutations in MPZ (CMT1B), mutations in GJB1 (X-linked CMT), and mutations in MFN2 (CMT2A). The introduction of next-generation sequencing techniques has significantly improved diagnostic yield, allowing identification of the genetic cause in an increasing number of patients and facilitating family counseling. Therapeutic management in pediatrics remains mainly symptomatic and multidisciplinary, including rehabilitation, orthotic support, orthopedic surgery when necessary, and pain management. However, advances in understanding molecular mechanisms, such as abnormalities in myelin, mitochondrial dynamics, and axonal transport, are driving the development of new targeted therapeutic strategies. Early identification and accurate genetic diagnosis are essential to optimize clinical follow-up and to promote access to future therapeutic trials.