Active clinical trials for "Ataxia"

The present study aims to define a protocol of electrical stimulation of the cerebellum via transcranial direct current stimulation (tDCS) combined with a virtual reality protocol to assist the rehabilitation of social skills in adolescents and young adults with childhood ataxia. Taking into account the high neuronal density of the cerebellum, its strong connection with the cerebral cortex, and its involvement in motor, cognitive and affective processes, as well its involvement in social prediction abilities, the investigators hypothesized that excitatory stimulation of the cerebellum might improve social prediction abilities in adolescents and young adults with childhood ataxia. Moreover, as suggested by previous studies investigating the effect of tDCS in paediatric population, the investigators expected that tDCS will be safe and well tolerated. Such a result would encourage the use of non-invasive brain stimulation in the rehabilitation of social skills in childhood ataxia.

Genetic cerebellar ataxias involves progressive degeneration of the cerebellum. Their overall prevalence is estimated at 2-4 cases per 100 000 people. These diseases are manifested by a static and kinetic cerebellar syndrome characterized by impaired balance, coordination, and an ataxic gait. To date, no therapy is available for patients and physical therapy is essential and recommended. The evolution of the pathology causes a degradation of walking, increased instability and risk of falling. In one year, between 74% and 93% of patients reported having fallen at least once. Falls prevention by understanding the mechanisms affecting stability is a major issue in the management of these patients physiotherapy. The analysis of the literature, we assume that there exists a trio "fatigue - instability - energy expenditure" in which the three parameters would influence each other. To date, we do not have data to characterize these interrelationships and their evolution over time. STUDY OBJECTIVES: The main objective is to study the relationship between changes in energy expenditure and changes in instability when walking at one year in patients with cerebellar ataxia gene. The secondary objectives are to study, after one year of development, the relationship between fatigue, instability, energy consumption, the number of falls, the severity of ataxia and quality of life. CONDUCT OF THE STUDY: This is a pilot, multicenter, interventional. The projected duration of patient recruitment will be 12 months and the total number of patients will be included in 15. The duration of participation in this study is 12 months for each patient. The anticipated duration of the study is 30 months. Development of the study: Patients included will perform two sets (S1 and S2) tests a year apart including the evaluation of ataxia according Scale for the assessment and rating of ataxia (SARA); measuring the quality of life through SF36 (The Short Form (36)) Questionnaire; quantifying the severity of fatigue perceived by FSS questionnaire quantifying the severity of physical tiredness by VAS before and after physical activity; quantified analysis of walking on walking track GAITRite® (with score calculation FAP and GVI) before and after physical activity; physical activity like walking on a treadmill (with measurement of maximal voluntary quadriceps by manual dynamometer before and after physical activity to ensure the induction of fatigue). Patients will be provided with a portable device for analyzing gas exchange FitMateMED® (COSMED, Rome, Italy) during walking analyzes GAITRite®.

The purpose of this study is to learn how Intravenous Immune Globulin (IVIG) will affect Spinocerebellar Ataxia (SCA) symptoms and how it will affect motor and nervous system function in participants Subtypes of SCA to be examined will include SCA types 1, 2, 3, 6, 10 and 11.

This study evaluates the feasibility of an early occupational therapy (OT) protocol in critical adult patients requiring mechanical ventilation with Covid-19.

Intervertebral disc degenerations are the most important cause of chronic low back pain resulting in job loss and associated socio-economic problems in developed and developing industrial countries 1. More than 40% of the Turkish population has experienced low back pain at least once in their life 2. Intervertebral disc degenerations Lumbal Disc Herniation (LDH), which is frequently represented, can cause motor and sensory losses in the lower extremity by compressing the spinal nerves. Lumbar disc surgery procedure is inevitable in case of advanced functional losses in the related sensory dermatomes and muscles after LDH. Lumbal disc surgeries are performed for the purpose of decompression of nerve pressures on nerves due to advanced disc herniation. they suggest 4. One of the most common LDH problems in the community is low foot problems due to weakness of the tibialis anterior muscle, which occurs due to L4-L5 disc herniation, and the accompanying functional disorders. In disc herniations at this level, the activation of the tibialis anterior muscle, which is compressed by the nerve root, decreases compared to the medial gastrocnemius muscle, where it works as an antagonist, and this leads to functional limitations, especially in gait and balance activities. Spinal stabilization exercises are a concept that emerged from the idea that exercise is important for the provision and preservation of functionality of people with low back and back pain due to LDH. According to this exercise approach, muscles are of great importance in providing lumbar region stability. These muscles are classified as general (global) stabilizing muscles, which are dynamic, phasic, and power-producing muscles, and regional (local) stabilizing muscles, which are postural, tonic, and stabilizer muscles. The main muscles responsible for spine stabilization are multifidus, transversus abdominus and pelvic floor muscles 6. It is argued that increased lumbo-pelvic motor control thanks to spine stabilization facilitates lower extremity activities, especially flexion and extension movements in the sagittal plane. Patients with LDH who increase their motor strength can use lower extremity movements more functionally. The aim of this study was to (1) determine the activation rates of the tibialis anterior and medial gastrocnemius muscles during different functional activities in the lower extremities affected and unaffected by LDH, (2) to compare the rates of the affected extremity to the rates of the healthy extremity during coactivation of the transversus abdominus and multifidus muscles (spinal stabilization basic exercise). to determine whether it is close or not. According to the hypothesis of this study, the researchers thought that the functional activities performed together with the activation of the transversus abdominus and multifidus muscles would show coactivation behaviors at a rate closer to the healthy extremity.

Cerebellar ataxia is a complex motor disturbance, which, can occur as a result of many diseases and presents with symptoms of an inability to coordinate balance, gait, extremity and eye movements. Lesions to the cerebellum can cause dyssynergia, dysmetria, dysdiadochokinesia, dysarthria and ataxia of stance and gait. Deficits are observed with movements on the same side of the body as the lesion (ipsilaterally).

Hereditary cerebellar ataxia is a type of autosomal dominant genetic disease, lesions mainly involving the cerebellum, but the spinal cord and cranial nerves may also be some involvement. A total of 20 molecularly diagnosed SCA1 patients divided in two groups. One group accepted for the treatment of stem cell transplantation,the other group will be the control. Purpose of this project to prove that allogeneic umbilical cord mesenchymal stem cells are applied to clinical safely, and in the treatment of hereditary cerebellar ataxia is valid.

Friedreich's ataxia (FA) is an autosomal recessive disease with an incidence of 1/50,000 in the Caucasian population. The main manifestations of FA are progressive sensory and cerebellar ataxia and cardiomyopathy (CM). It is the most common form of inherited ataxia. A severe CM affects ~60% of FA patients, mostly young adults, and leads to cardiac failure then death. Currently, no therapy can change the course of this severe cardiomyopathy. This study is designed to characterize the cardiac manifestations of FA using cardiac magnetic resonance (CMR), echocardiography, serum cardiac biomarkers and evaluation of fatigue severity, in the context of the neurological disease.

Every individual with joint hypermobility may not apply to a health institution because they do not have a complaint that will affect their daily life. Although hypermobility is a common clinical entity in the society, this issue has not been fully understood yet. In particular, individuals with GJH are either neglected in physiotherapy and rehabilitation evaluations and practices, or they encounter an incomplete assessment and physiotherapy practices. In this study, in order to better understand the effect of GJH on "core" muscle endurance, upper extremity strength, grip strength and coordination, we will include the individuals identified GJH among the university students (hypermobility severity ≥4/9 according to Beighton diagnostic criteria) as study group and the healthy peers as control group. We believe the results we will obtain at the end of our study will make a contribution to the literature in terms of revealing the role of "core" muscle endurance and upper extremity strength, grip strength and coordination in the evaluation and rehabilitation of individuals with GJH. In addition, it will contribute to the inclusion of individuals with GJH who are professional athletes, dancers or musicians in a more comprehensive evaluation program and the creation of physiotherapy and rehabilitation programs. According to the information we have obtained from the literature, it is a fact that hypermobility can increase the susceptibility to musculoskeletal system diseases. For this reason, early solutions to problems can be provided by evaluating hypermobility in patients who apply to health institutions with various musculoskeletal complaints, raising awareness of patients with hypermobility to prevent injuries caused by hypermobility, and strengthening muscles.

With exposure to high altitude some individuals will develop acute mountain sickness (AMS). Current evaluation of AMS can make it difficult to rule out other possible conditions. Evaluation of ataxia, as measured by the performance of a coordinated task, can aide in the correct diagnosis of AMS. The investigators have developed novel finger-tapping tasks on a mobile device to assess both reaction time and accuracy. The proposed research will evaluate the utility of this tool in assessing human acclimatization to hypoxia.