View clinical trials related to Congenital Myopathy.
Filter by:This study aims to determine the association between the pathological changes detected by ultrasound and those detected in MRI in muscle diseases of different etiologies.
The aims of the current study are as follow: i) Evaluate the safety, usability, and acute efficiency of a powered knee-hip dermoskeleton (MyoSuit, MyoSwiss, Zurich, Switzerland) in patients with neuromuscular disorders, ii) Elaborate recommendations regarding usability criteria for safe and efficient use the device in patients with neuromuscular disorders (e.g. type and severity of patient's functional deficits), iii) generate necessary data to foresee a future study involving a home use of the device and assessment of long-term benefits.
The aims of the current study are as follow: i) Evaluate the safety, usability, and acute efficiency of a programmable ambulation exoskeleton (KeeogoTM Dermoskeleton System, B-Temia Inc., Quebec, Canada) in patients with neuromuscular disorders, ii) Elaborate recommendations regarding usability criteria for safe and efficient use the device in patients with neuromuscular disorders (e.g. type and severity of patient's functional deficits), iii) generate necessary data to foresee a future study involving a home use of the device and assessment of long-term benefits.
Congenital myopathies (CM) is a large group of muscle disorders, presenting with hypotonia and non-progressive generalised muscle weakness, which can lead to motor developmental delay.More than 20 genes can cause CM and currently there is no curative treatment for this disorder. Case reports and a smaller study have previous reported that oral salbutamol has benefited subjects with different types of congenital myopathies by increasing their muscle strength.The exact effect of salbutamol in muscle cells isn't exactly known but it has been hypothesized to have an anabolic effect by triggering different pathways inside the muscle cells which increase cell proliferation, decrease apoptosis, decreases proteolysis and increases protein synthesis. The aim of our study is evaluate if daily oral salbutamol can increase the muscle function and muscle strength in these patients after 6 months on treatment, compared to no treatment.
Bullying is an epidemic in Canada, and rates may be underreported. Youth with a disability were more likely to be bullied that those without disabilities, specifically if the disability was visible. Research has been conducted on the prevalence and effects of bullying in youth with disabilities such as cerebral palsy, obesity, and chronic pain; however, there is a paucity of research involving youth with muscular dystrophy and congenital myopathies. The objectives of this study are to: (1) measure bullying frequency, (2) describe the types of bullying experiences; and (3) explore barriers and facilitators to dealing with bullying by youth with muscular dystrophy or congenital myopathies and their parents. The objectives will be met by an online survey and qualitative interviews of youth with muscular dystrophy and congenital myopathy and their parents.
Patients with inherited muscle diseases can have several problems in their muscles, which can be both structural and metabolic. All the different diseases can affect the contractility of the muscles. The aim of the study is to investigate the relation between muscle strength and contractile cross sectional area (CCSA) in the thigh and calf in patients affected by inherited muscle diseases.
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.