Kikuchi Kazuto
Physical Therapy, Akita Rehabilitation College, Akita, JPN.
Cureus. 2025 Jun 8;17(6):e85581. doi: 10.7759/cureus.85581. eCollection 2025 Jun.
Charcot-Marie-Tooth disease (CMT) is a hereditary and progressive peripheral neuropathy affecting both motor and sensory nerves. It is among the most common inherited neuropathies and is primarily classified into demyelinating (type 1) and axonal (type 2) forms based on motor nerve conduction velocity, with over 100 genetic subtypes identified. Due to this genetic and clinical heterogeneity, the onset, severity, and degree of motor and sensory impairments vary widely among individuals. One of the hallmark manifestations of CMT is gait disturbance. As the disease progresses, individuals often develop foot drop and foot deformities such as pes cavus and equinus, leading to a significant decline in gait function. This results in limitations in activities of daily living, increased risk of falls, reduced social participation, and decreased quality of life. Currently, no curative treatment exists for CMT. Management focuses on symptomatic interventions, including orthotic support, surgical procedures, and physical therapy. While physical therapy may improve muscle strength and physical function, the quality of evidence remains moderate, and no standardized rehabilitation protocols have been firmly established. Tailored physical therapy programs are considered essential for effective intervention. Given these challenges, the need for quantitative and objective assessment of gait disturbances in CMT has become increasingly important. Conventional clinical scales, such as the CMT Neuropathy Score, rely heavily on subjective grading and offer limited value in detailed gait analysis. In contrast, recent advances in motion analysis - such as three-dimensional gait analysis, ground reaction force measurement, and wearable sensors - have provided more precise assessments. However, issues related to standardization and clinical applicability remain unresolved. This review aims to summarize the neuropathology and clinical characteristics of gait disturbances in CMT, discuss current gait assessment methodologies, explore physical therapy strategies, and highlight the need for quantitative evaluation and future research directions in rehabilitation for this patient population.
夏科-马里-图斯病（CMT）是一种遗传性进行性周围神经病变，会影响运动神经和感觉神经。它是最常见的遗传性神经病变之一，主要根据运动神经传导速度分为脱髓鞘型（1型）和轴索性（2型），已确定有100多种基因亚型。由于这种基因和临床异质性，个体之间的发病年龄、严重程度以及运动和感觉障碍程度差异很大。CMT的标志性表现之一是步态障碍。随着疾病进展，患者常出现足下垂和足部畸形，如高弓足和马蹄足，导致步态功能显著下降。这会导致日常生活活动受限、跌倒风险增加、社会参与度降低以及生活质量下降。目前，CMT尚无治愈性治疗方法。治疗重点在于对症干预，包括矫形支持、外科手术和物理治疗。虽然物理治疗可能会改善肌肉力量和身体功能，但证据质量仍为中等，且尚未牢固确立标准化的康复方案。量身定制的物理治疗方案被认为对有效干预至关重要。鉴于这些挑战，对CMT患者步态障碍进行定量和客观评估的需求变得越来越重要。传统的临床量表，如CMT神经病变评分，严重依赖主观分级，在详细的步态分析中价值有限。相比之下，运动分析的最新进展——如三维步态分析、地面反作用力测量和可穿戴传感器——提供了更精确的评估。然而，与标准化和临床适用性相关的问题仍未解决。本综述旨在总结CMT患者步态障碍的神经病理学和临床特征，讨论当前的步态评估方法，探索物理治疗策略，并强调对该患者群体进行定量评估的必要性以及康复领域未来的研究方向。
