View clinical trials related to Muscular Diseases.
Filter by:The investigators wish to investigate fat and sugar metabolism during exercise with and without L-carnitine supplementation in patients with carnitine transporter deficiency (CTD). Patients with CTD have low plasma- and muscle concentrations of carnitine, which is believed to lead to an impaired fat oxidation. Presently there is no cure available for these patients, but daily intake of L-carnitine has been shown to limit the amount of symptoms. Little is known about the metabolism during exercise and the pathophysiological mechanisms causing the symptoms. Studying the fat and sugar metabolism in CTD patients will contribute to the understanding of the role of the carnitine transporter in the development of symptoms in these patients. Furthermore, knowledge about the fat and sugar metabolism in these patients can increase the understanding of the role of the carnitine transporter in the metabolism healthy persons. The investigators have included 8 patients with genetically verified CTD in the study and a group of 10 age- and sex-matched controls. Subjects will perform a 1h cycling test, exercising at a moderate intensity. By measuring the expiration of carbon dioxide (CO2) and consumption of oxygen (O2), the investigators can determine the total fatty acid and carbohydrate oxidation during cycling. At the same time the investigators will measure the patients' whole body palmitate (fat) and glucose (sugar) oxidation rates using stable isotope technique. The patient group will repeat the cycling test after 4 days without taking their usual L-carnitine treatment. During the treatment break, patients will be admitted to be continuously monitored for heart rhythm disturbances, which is a known but rarely occurring complication to untreated CTD. Since the patients have a defect in their fat metabolism, the investigators expect to find that they have a reduced ability to burn fat, which is the major source of energy during low intensity exercise. It is therefore likely, that the CTD patients will benefit from adjustments in their daily diet, whenever they have to perform physically. By learning about the metabolism of different dietary substances, fat and sugar, these studies can help to improve the treatment in terms of dietary recommendations for CTD patients. This will have a direct impact on the daily life of the patients.
This study is evaluating the use of two painless, non-invasive technologies in the assessment of muscle health over time in both healthy volunteers and patients who have diseases that affect the nervous system.
Topical application of BV ointment in patients with Research Diagnostic Criteria/Temporomandibular Disorder 1a and 1b (RDC/TMD) in experimental group, compared to placebo (vaseline) in control group.Application was repeated 3 times a day, during 14 days. Surface electromyography (EMG) was used to measure masseter rest tonus and maximal voluntary contraction tonus. Pain intensity was also analysed in VAS scale. Effectiveness of BV was compared with placebo in masseter myofascial pain in patients with TMD
The purpose of this study is to determine whether active stretching with low frequency currents are more effective than active stretching in the treatment of hamstring shortness syndrome in children.
This is a prospective, non-interventional, longitudinal study of the natural history and function of approximately 60 patients with MTM from the United States, Canada and Europe. The duration of the study, including the enrollment period, will be 36 months. Data from the study will be used to characterize the disease course of MTM and determine which outcome measures will be the best to assess the efficacy of potential therapies.
Philips Healthcare has added a virtual path planner to the current commercially available XperGuide software platform and that has the potential to significantly reduce dose during image-guided needle interventions.
Congenital myopathies are clinical and genetic heterogeneous disorders characterized by skeletal muscle weakness. Most patients experience muscle weakness and fatigue throughout their life. However, progression of symptoms is rare. There are no specific treatments for congenital myopathies. Training has been shown to benefit several other muscle diseases with weakness, but the defect in congenital myopathies involves contractile proteins of the sarcomere, why the effect of training is uncertain in these conditions. The investigators will therefore investigate the effect cycle-ergometer training for 30 minutes, three times weakly, for ten weeks in 15 patients with congenital myopathy. Another 5-10 congenital myopathy patients, who do not train, will serve as controls for the trained patients. The study starts and ends with a test day, where efficacy based on VO2max, performance in functional tests and a questionnaire will be assessed.
So far, only limited data is available regarding the natural course in Congenital Cataract Facial Dysmorphism Neuropathy Syndrome (CCFDN) and sporadic and hereditary inclusion body myopathies (IBM). Several criteria and outcome measures have led to contradicting results. The investigators want to retrospectively assess the natural course of the disease in CCFDN and IBM patients according to the data recorded during clinical routine visits.
Muscular dystrophy is a group of disorders that are characterized by progressive muscle weakening and loss of muscle mass, caused by defects in muscle proteins. Muscular dystrophy is almost always inherited disorders, and so far, no curative treatments exist. Previous studies have shown that endurance training significantly improves fitness and self-assessed muscle function in a variety of muscular dystrophies. In this study, we wish to investigate whether patients with Bethlem myopathy (a specific form of muscular dystrophy) also benefit from endurance training. The study consists of two test days, a 10-week training period and five blood tests. Patients will be required to train, three times per week, for 10 weeks, on a bike ergometer with a specific training intensity, under pulse rate monitoring. The training period will be flanked by two test days, where we will determine, and compare the patients' muscle strength and fitness level, from before to after the training program. The patients conditioning level will be determined from a 15 minute cycle ergometer test and patients will undergo three functional tests to determine their functional muscle strength. We will as a safety measure analyze blood tests before, during and after the training program for the muscle enzyme creatine kinase (an indicator of muscle damage) and through adverse effects as reported by patients during weekly telephone-consultations with the Principal investigator. We anticipate, that Bethlem myopathy patients will have a similar rise in fitness level and functional muscle strength, as that seen in patients with other forms of muscular dystrophy, who undertake a similar training program.
X-Linked myotubular myopathy (XLMTM), a form of centronuclear myopathy (CNM) is the result of a mutation in the MTM1 (myotubularin) gene which leads to altered myotubularin. Myotubularin is essential for optimum muscle function. To date, over 100 mutations have been described resulting in a range of disease onset and symptom severity. The early onset form presents with neonatal hypotonia, muscle weakness, respiratory distress and an ongoing requirement for continuous ventilatory support with the inability to maintain a sitting position once placed. Males with both later onset and milder symptoms usually do not require ongoing ventilatory support, achieve a higher maximal motor function with ability to sit when placed and even walk, and have improved survival rates. Males with XLMTM may experience complications (events) at birth and throughout their lifetime. The goal of the study is to identify the number of events over twelve months in males with genetically confirmed XLMTM. Parents or affected individuals over the age of 18 years who are able to access telephone will provide answers to an established event survey to evaluate the frequency and types of events. Emergency department, hospital admissions and mortality will be confirmed by obtaining medical reports. The investigators hypothesize that there will be no association between the frequency of events and markers of clinical severity including the need for ventilatory support at birth, current level of ventilatory support (no support, support less than 12 hours, support more than 12 hours) and current motor function (walking, sitting without support, inability to sit without support).