Early Intervention Strategies in Charcot–Marie–Tooth Disease Type II: A Case Study on Pediatric Physiotherapy Management

Abstract

Background: Charcot–Marie–Tooth disease type II (CMT2) is an inherited axonal sensorimotor neuropathy with heterogeneous and often subtle manifestations in early childhood. Delayed recognition may limit opportunities for timely preventive rehabilitation and early functional optimization. Purpose: To describe the clinical presentation, comprehensive functional assessment, and physiotherapy management of a young child with electrophysiological features consistent with CMT2, and to contextualize these findings through a targeted narrative review of contemporary pediatric neurorehabilitation literature. Case Description: A 3-year-9-month-old female child presented with emerging balance and gait difficulties despite largely age-appropriate early developmental milestones. A multidimensional assessment framework was employed, including developmental screening, gross motor and balance evaluation using the Gross Motor Function Measure-88 (GMFM-88) and Pediatric Balance Scale (PBS), caregiver-reported outcome measures, detailed musculoskeletal examination, and nerve conduction studies. Neurophysiological findings demonstrated a moderately severe primary axonal sensorimotor polyneuropathy, supporting a diagnosis within the Charcot–Marie–Tooth disease type II (CMT2) spectrum. Intervention: An individualized, evidence-informed physiotherapy program was initiated, emphasizing task-oriented strengthening, balance and gait training, prevention of secondary musculoskeletal complications, and structured caregiver education. Intervention planning incorporated defined dosimetry and a preventive rationale guided by current evidence. Outcomes: Following early intervention, the child demonstrated improved postural stability during functional tasks, enhanced task participation during balance-challenging activities, and better tolerance to age-appropriate gross motor activities. Caregivers reported increased confidence in handling, positioning, and implementing home-based strategies. Conclusion: Early, structured physiotherapy guided by integrated functional and neurophysiological assessment may support functional preservation, reduce secondary complications, and promote proactive management in children with suspected CMT2.