Nuove metodiche riabilitative nelle malattie neuromuscolari e neurodegenerative

Introduction Myotonic Dystrophy type I (DM1) and Hereditary Spastic Paraparesis (HSP) are inherited rare disorders characterized by severe muscular impairment. At present, no effective pharmacological treatment is available. To date, only a limited number of clinical studies on rehabilitation in DM1 and HSP patients have been conducted. Moreover there is an increasing need to identify innovative rehabilitation approaches, especially for those patients who are more severely compromised and therefore at a greater risk of adverse events. Functional Electrical Stimulation (FES) is a rehabilitative approach that combines electrical stimulation with a functional task. Several studies performed on patients with cerebrovascular disease or spinal cord lesions evidenced the positive effects of this approach in improving muscle mass, and cardiovascular performances. So far, no studies have been conducted on FES in rare diseases. Objective The main objective of the study is to evaluate the safety and efficacy of FES-cycling in DM1 and HSP. Design We conducted two controlled pilot studies. In the first we assessed patients with DM1 while in the second subjects with HSP. In each study, participants were divided in two groups matched for clinical variables, who performed two types of treatment: FES cycling training and conventional stretching, resistance and aerobic training. The modified MRC scale, Ashworth scale and functional assessments were performed before and after treatment. Cohen d effect size was used for statistical analysis. Results FES induced lower extremity training was well tolerated and resulted in a greater improvement of tibialis anterior muscle strength (d= 1,583 DM1; d= 0.840 HSP), overall muscle strength (d=1,723 DM1; d= 0.582 HSP), spasticity (d= 1.334 HSP), walking speed (d= 0.820 HSP) and endurance (d=0,626 DM1) than conventional training Conclusions FES might be considered a safe and valid tool to improve muscle function, also in muscles severely compromised in which no other restorative options are available. Confirmation of FES efficacy through further clinical trials is strongly advised.