Physical Medicine and Rehabilitation Unit, Department of Neurosciences, ASST Carlo Poma, 46100, Mantova, Italy.
Institute of Neurology, Department of Medical and Surgical Sciences, University of Catanzaro "Magna Graecia", 88100, Catanzaro, Italy.
Neurol Sci. 2024 Jan;45(1):289-297. doi: 10.1007/s10072-023-06998-0. Epub 2023 Aug 8.
Charcot-Marie-Tooth (CMT) disease is one of the most common inherited neuropathies and can lead to progressive muscular weakness, pes cavus, loss of deep tendon reflexes, distal sensory loss, and gait impairment. There are still no effective drugs or surgical therapies for CMT, and supportive treatment is limited to rehabilitative therapy and surgical treatment of skeletal deformities. Many rehabilitative therapeutic approaches have been proposed, but timing and cadence of rehabilitative intervention are not clearly defined, and long-term follow-up is lacking in literature. The aim of this real-practice retrospective study was to assess the effectiveness of an intensive neurorehabilitation protocol on muscle strength and functioning in CMT patients. We analyzed data of patients with diagnosis of mild to moderate CMT. The rehabilitation program lasted 2-4 h a day, 5 days a week, for 3 weeks and consisted of manual treatments, strengthening exercises, stretching, core stability, balance and resistance training, aerobic exercises, and tailored self-care training. Data were collected at baseline (T), after treatment (T), and at the 12-month mark (T) in terms of the following outcome measures: muscle strength, pain, fatigue, cramps, balance, walking speed, and ability. We included 37 CMT patients with a median age of 50.72 ± 13.31 years, with different forms: demyelinating (n = 28), axonal (n = 8), and mixed (n = 1). After intensive rehabilitation treatment, all outcomes significantly improved. This improvement was lost at the 1-year mark. Taken together, these findings suggest that an intensive rehabilitation program improves short-term symptoms and functional outcomes in a cohort of inpatients affected by mild to moderate CMT.
腓骨肌萎缩症(CMT)是最常见的遗传性周围神经病之一,可导致进行性肌肉无力、高弓足、深腱反射消失、远端感觉丧失和步态障碍。目前尚无针对 CMT 的有效药物或手术治疗方法,支持性治疗仅限于康复治疗和骨骼畸形的手术治疗。已经提出了许多康复治疗方法,但康复干预的时机和节奏尚未明确定义,文献中缺乏长期随访。本真实实践回顾性研究旨在评估强化神经康复方案对 CMT 患者肌肉力量和功能的有效性。我们分析了轻度至中度 CMT 诊断患者的数据。康复计划每天持续 2-4 小时,每周 5 天,持续 3 周,包括手动治疗、强化锻炼、伸展、核心稳定性、平衡和阻力训练、有氧运动以及定制的自我护理训练。数据在基线(T)、治疗后(T)和 12 个月标记(T)时收集,评估以下结果指标:肌肉力量、疼痛、疲劳、痉挛、平衡、行走速度和能力。我们纳入了 37 名 CMT 患者,中位年龄为 50.72±13.31 岁,具有不同的形式:脱髓鞘(n=28)、轴索(n=8)和混合(n=1)。经过强化康复治疗后,所有结果均显著改善。这种改善在 1 年时消失。总之,这些发现表明,强化康复方案可改善轻度至中度 CMT 住院患者的短期症状和功能结局。