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Pediatric Rehabilitation

Charcot-Marie-Tooth Pediatric Presentation and Profile in Puerto Rico

Saturday, October 25, 2025
12:00 PM - 1:30 PM MT
Location: Kiosk 7
Disclosure(s):
Humberto Ramirez-Negron, MD: No financial relationships to disclose
Background and/or Objectives: Charcot-Marie-Tooth disease (CMT) represents a genetically diverse group of inherited peripheral neuropathies, with clinical manifestations that vary. The mean age of symptom onset across CMT subtypes is approximately 12 years. However, a definitive diagnosis is frequently delayed until adulthood. Pediatric rehabilitation specialists are often among the first clinicians to evaluate these patients due to early motor delays or gait abnormalities. The present study aims to characterize the clinical features and genetic profiles of pediatric patients with CMT in Puerto Rico.

Design: Cross-sectional study consisting of chart review of patients diagnosed with CMT.

Setting : Patients evaluated at the MDA Care Center in San Juan, Puerto Rico.

Participants : Patients aged 20 years or younger diagnosed with CMT (via genetic testing) and followed at the MDA Care Center in San Juan, Puerto Rico.

Interventions: None

Main Outcome Measures: Age at diagnosis, initial clinical presentation, genetic mutation, disease classification (CMT type, axonal vs. demyelinating)

Results: Most common age ranges in which patients were diagnosed with CMT were 1-5 (33%) and 6-10 (33%). Of all patients in the study, 57.5% were male, 42.5% were female. Most common initial clinical presentations were pes cavus (34%), distal lower extremity atrophy (18%) and impaired gait (15%). There were 14 different genes identified during genetic testing associated with CMT, most commonly PMP22 and GDAP1, accounting for 59.4% of all cases. Most common CMT type among the different genetic mutations was CMT2 (56%), followed by CMT4 (25%), and CMT1 (7%). Axonal variants accounted for 56% of all cases, followed by demyelinating (38%), and variable (6%).

Conclusions: This study profiles the variability in clinical and genetic characteristics of a subset of the Puerto Rican pediatric population with CMT. Patients with similar symptoms benefit from early diagnosis, intervention and education for them and their families, especially in the pediatric population.