Effects of intensive rehabilitation on functioning in patients with mild and moderate Charcot-Marie-Tooth disease: a real-practice retrospective study.

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 (T0), after treatment (T1), and at the 12-month mark (T2) 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.

Long-term walking ability and patient satisfaction after lower limb functional surgery in patients affected by Charcot-Marie-Tooth disease: A retrospective study.

Structural foot deformities consequent to Charcot Marie Tooth (CMT) can be treated by functional surgery (FS). This study aims to evaluate both long-term walking ability and patients' satisfaction in CMT subjects who underwent FS during their lifetime. We conducted a retrospective observational study. Age, sex, CMT type, comprehensive surgical history, current walking ability assessed by the Walking Handicap Scale (WHS) and patients' global impression of change (pGIC) were retrieved from a custom database managed at our institution. WHS and pGIC were assessed between mid-2018 and mid-2019. Data from 79 patients were screened and 63 were included, 35W-28M, mean age 42 (15), with demyelinating (75%), axonal (20%), and other types (5%) of CMT, who underwent FS between 1967 and 2018. FS evolved significantly over the years from bone-related procedures (e.g., arthrodesis) to both bone and soft tissues-related procedures. The re-intervention rate decreased from 70% before 2000 to 32% in the last decade. Complications arose in five cases. FS was mainly performed on adults (73%). WHS was ≥ 5 in three-quarters of the sample (range 1-6) and was significantly affected by age groups in patients with demyelinating CMT (n=47, p<0.01, non-parametric ANOVA). Nearly 80% of patients were satisfied with FS (pGIC ≥ 4). In conclusion, CMT subjects who underwent FS surgery maintained a high gait efficiency in the long-term period, with middle to high levels of satisfaction in the majority of the cases. This confirms the validity of FS in the management of acquired foot deformities in CMT patients.

The efficacy of functional surgery associated with early intensive rehabilitation therapy in Charcot-Marie-Tooth Type 1A disease.

BACKGROUND: Charcot-Marie-Tooth (CMT) is a genetically and clinically heterogeneous disorder, and it is caused by alterations in genes with different loci that encode for proteins, resulting into metabolic and structural defects. The most common form of the disease is type 1A. Treatment of the disease, due to the absence of an effective pharmacological therapy, mainly relies on surgical treatment and rehabilitative therapy. However, the literature is still poor of evidences on this subject. The aim of the study was to describe a treatment protocol based on the integration of functional surgery and early intensive neurorehabilitation in CMT1A disease patients. CASE REPORT: Five patients with CMT1A (2 females, 3 males), 19-57 years, age 36.8±14 years (mean±SD) are described in the paper. Pre - and post-treatment clinical and quantitative evaluation including muscle and balance score, patient questionnaires, and gait analysis was held. Treatment consisted in functional surgery followed (after the removal of the cast) by a three weeks intensive neurorehabilitation treatment during which patients were hospitalized. The post-treatment examination documented an overall improvement of walking and balance, and reduction of pain. A smaller reduction of fatigue and cramps was observed. Gait analysis showed decreased foot-drop, increased ankle power, and increased knee flexion as a compensatory mechanism. Even considering the heterogeneity of patients in CMT disease this clinical series study confirms that functional surgery followed by intense neurorehabilitation might be considered a valid approach to improve patients with CMT1A. CLINICAL REHABILITATION IMPACT: Clinical impact of the study mainly relies on the detailed description of an effective method of evaluation, surgical and rehabilitative treatment of patients with CMT disease. Even taking into account the heterogeneity of CMT patients, this case series study confirms that functional surgery integrated with early intensive neurorehabilitation might be considered a valid approach to improve the performances of patients with CMT1A.