RESUMO
Multiple Sclerosis (MS) is a chronic inflammatory, autoimmune disease of the Central Nervous System with a vast spectrum of clinical phenotypes. A major aspect of its clinical presentation is cerebellar ataxia where physiotherapy and treatment modalities play a significant role on its management. This systematic review aims to investigate the physiotherapeutic rehabilitation techniques regarding the management of cerebellar ataxia due to MS and secondary to stratify each protocol as part of a multi structural personalized rehabilitation approach based on the gravity of the symptoms. A Pubmed Medline, Scopus and Web of Science research was performed using the corresponding databases. The results were screened by the authors in pairs. In our study, six (6) non-pharmacological interventional protocols, 3 Randomized Controlled Trials and 3 pilot studies, were included with a total of 145 MS patients. Physiotherapeutic techniques, such as NDT-Bobath, robotic and visual biofeedback re-education protocols and functional rehabilitation techniques were included. In most cases cerebellar ataxic symptoms were decreased post-treatment. The overall quality of the studies included was of moderate level (level B). Rehabilitation in cerebellar ataxia due to MS should be based on multicentric studies with the scope of adjusting different types of treatments and physiotherapeutic techniques based on the severity of the symptom.
RESUMO
BACKGROUND: Fabry disease (FD) is an inherited lysosomal storage disorder, leading to multisystemic manifestations and causing significant morbidity and mortality. OBJECTIVE: The aim of this narrative review is to present the current and novel therapeutic strategies in FD, including symptomatic and specific treatment options. METHODS: A systematic literature search was conducted to identify relevant studies, including completed and ongoing randomized-controlled clinical trials (RCTs), prospective or retrospective cohort studies, case series and case reports that provided clinical data regarding FD treatment. RESULTS: A multidisciplinary symptomatic treatment is recommended for FD patients, personalized according to disease manifestations and their severity. During the last two decades, FD-specific treatments, including two enzyme-replacement-therapies (agalsidase alfa and agalsidase beta) and chaperone treatment with migalastat have been approved for use and allowed for symptoms' stabilization or even disease burden reduction. More therapeutic agents are currently under investigation. Substrate reduction therapies, including lucerastat and venglustat, have shown promising results in RCTs and may be used either as monotherapy or as complementary therapy to established enzymereplacement- therapies. More stable enzyme-replacement-therapy molecules that are associated with less adverse events and lower likelihood of neutralizing antibodies formation have also been developed. Ex-vivo and in-vivo gene therapy is being tested in animal models and pilot human clinical trials, with preliminary results showing a favorable safety and efficacy profile. CONCLUSION: The therapeutic landscape in FD appears to be actively expanding with more treatment options expected to become available in the near future, allowing for a more personalized approach in FD patients.