Outcome Measures and Rehabilitation Treatment in Patients Affected by Charcot-Marie-Tooth Neuropathy

Abstract

Objective: We evaluated the sensitivity of various rehabilitation and lung function scales to detect differences between people with Charcot-Marie-Tooth (CMT) disease and healthy controls. We also studied whether these measurements are sensitive to disclose changes in patients with CMT disease after rehabilitative treatment.Design: Eight patients with different types of CMT participated in the study.Data were gathered at baseline; at the end of the treadmill training, stretching, respiratory, and proprioceptive exercise (TreSPE) treatment period; and after a washout period of 6 mos. The following instruments were used for data collection: Medical Research Council scale for lower limb strength; Tinetti Balance Scale; Physical Performance Battery; ankle angle, oxygen consumption, and lung function tests; peak treadmill velocity and slope; time to walk 6 m; and CMT Neuropathy Score. The participants underwent TreSPE treatment twice every week for 8 wks.Results: All rehabilitative measures were significantly worse in subjects with CMT disease than in healthy controls. Lung function was always normal except for the maximum expiratory pressure and maximum inspiratory pressure. No dropouts or worsening in any of the different outcome measures were observed after TreSPE. The ankle angle and the time to walk 6 m were the only measures that significantly improved after treatment. Conclusions:The rehabilitative outcome measures used in this protocol are useful in detecting clinical impairment in people with CMT disease. Lung function tests were confirmed to be minimally abnormal in patients with CMT disease. The TreSPE treatment, besides being safe and well tolerated, induced some training effects in CMT neuropathy, in the absence of lung function amelioration and effort tolerance. Follow-up showed that CMT patients should be treated at least twice every year because a regression of all outcome measures to the baseline state was found after a 6-mo washout period.

Is overwork weakness relevant in Charcot–Marie–Tooth disease?

“…For instance, Maggi et al 25 did not find evidence of OW in their small series of patients such treated and proposed to repeat treatment at least every 6 months to prevent the loss of benefit they observed to occur. Accordingly, physical activity should be encouraged in CMT1A (and possibly in CMT as a whole), and to date rehabilitation remains the most effective treatment for this condition 24–26…”

Principles of Nerve and Muscle Rehabilitation

“…There are several disease-specifi c scales that may be used, e.g., a quality-of-life questionnaire for chemotherapyinduced peripheral neuropathy (Postma et al 2005 ), a fatigue severity scale for immune-mediated polyneuropathies (Merkies et al 1999 ), the CMT Neuropathy Score (Maggi et al 2011 ), or the Neuropathy Disability Scale (Van der Meche and Schmitz 1992 ).…”

Role of stretch therapy in comprehensive physical habilitation of patients with Charcot–Marie–Tooth hereditary neuropathy

“…(2011) [27] было посвящено влиянию ЛФК (тредмил, стрейч-терапия, дыхательные и проприоцептивные упражне-ния в течение 6 мес) на состояние дыхательных функ-ций у пациентов с БШМТ и у здоровых добровольцев. Авторами показано, что использованный ими трени-ровочный режим был безопасным и хорошо перено-сился, способствовал улучшению показателей дыха-тельных функций, однако число пациентов с БШМТ, включенных в исследование, было ограниченным (n = 8).…”

“…Авторами показано, что использованный ими трени-ровочный режим был безопасным и хорошо перено-сился, способствовал улучшению показателей дыха-тельных функций, однако число пациентов с БШМТ, включенных в исследование, было ограниченным (n = 8). Авторы рекомендовали регулярные и повтор-ные курсы данного тренировочного режима (до 2 раз в год), поскольку положительные показатели прове-денного лечения регрессировали в течение последую-щих 6 мес отдыха [27].…”