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.