Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous inherited peripheral neuropathy characterized by progressive distal muscle weakness, sensory impairment, and neuromuscular foot deformities. These impairments frequently alter gait mechanics and reduce walking capacity. In the absence of disease-modifying therapies, clinical management focuses on optimizing functional mobility and mitigating secondary musculoskeletal consequences.
Both conservative physical therapy and functional surgical correction followed by rehabilitation are widely used to address gait-limiting deformities in CMT. Physical therapy primarily targets strength, balance, and motor control, whereas surgical intervention aims to improve structural alignment and rebalance muscle-tendon forces. Despite routine implementation of both approaches, comparative evidence regarding their longitudinal effects on objective walking performance remains limited.
This study uses a bidirectional observational cohort design integrating retrospectively ascertained treatment exposure with prospectively collected longitudinal outcomes. Individuals with CMT-related foot deformities affecting walking who were treated between January 2017 and January 2024 were identified from an institutional clinical database. Participants were classified according to treatment strategy: (1) functional surgical correction followed by standardized postoperative rehabilitation, or (2) structured physical therapy alone. Treatment allocation was determined by routine clinical decision-making rather than randomization.
To address confounding inherent in nonrandomized comparisons, propensity score matching was applied to balance baseline demographic and disease-related characteristics between treatment groups. Covariates included factors such as age at presentation, genetic subtype when available, and baseline disease severity. Balance diagnostics were assessed to confirm adequate group comparability following matching.
The primary focus of the study is longitudinal walking performance. Standardized performance-based assessments of habitual walking speed and functional walking capacity were administered at baseline and during follow-up. A multidimensional framework was used to capture impairment-level measures, task-specific walking performance, and patient-reported health status, enabling evaluation of both functional change and broader clinical impact.
Follow-up assessments were conducted at prespecified intervals up to 2 years after treatment initiation. Baseline data were extracted from electronic medical records, and follow-up data were collected prospectively through structured outpatient assessments and standardized remote evaluations when necessary. Consistent assessment procedures were implemented across time points to enhance reproducibility.
Longitudinal analyses were performed using repeated-measures modeling to evaluate within- and between-group changes over time, with particular emphasis on group-by-time interactions. Multivariable regression analyses were conducted to explore associations between treatment strategy and changes in walking performance while adjusting for relevant clinical covariates. Clinically meaningful improvement was evaluated using established minimal clinically important difference thresholds for walking-related outcomes. Missing data were handled using multiple imputation techniques.
Quality assurance procedures included standardized evaluator training, predefined analytic plans, and structured data management processes to minimize bias and enhance methodological rigor.
Through this longitudinal and performance-centered design, the study aims to clarify the functional consequences of surgical and conservative management strategies for gait-limiting CMT-related foot deformities and to better characterize the trajectory and clinical relevance of walking outcomes over time.
