View clinical trials related to Muscular Diseases.
Filter by: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.
To evaluate specific characteristics of phenotype, immune status, molecular and genetic as well as morphological characteristics of adult patients with limb-girdle muscular dystrophy R2 in various regions of the Russian Federation.
The purpose of this study is to investigate the impact of expiratory muscle strength training (EMST) on the swallowing, breathing, oral intake, quality of life and cough function of people with oculopharyngeal muscular dystrophy (OPMD).
The aim of this study is to quantify muscle relaxation properties of the finger flexor muscles in patients with different myopathies. The inhibiting effects of transcranial magnetic stimulation (TMS) on the cortical motor hand area are used to induce relaxation, which in turn will be monitored with handgrip dynamometry and EMG. The investigators will evaluate if this technique can be implemented as a diagnostic tool in clinical practice. Muscle relaxation is an often overlooked property of the muscle as compared to muscle strength or activation. Muscle relaxation is affected in different myopathies, such as myotonic dystrophy, non-dystrophic myotonias, and Brody myopathy. Therefore, a diagnostic tool to quantify muscle relaxation is of clinical and scientific importance. In this study, transcranial magnetic stimulation (TMS) is used, in combination with a dynamometer to quantify muscle relaxation properties. Transcranial magnetic stimulation (TMS) is a non-invasive technique that is commonly used to stimulate the brain. In practice, a circular coil is held directly above the scalp, upon which a strong current pulse induces a magnetic field that stimulates the underlying superficial brain areas. This stimulation can have both activating and inhibiting effects. When the motor cortex (i.e. the area of the brain that controls muscle contractions) is strongly stimulated with TMS during a voluntary muscle contraction, both excitatory and inhibitory effects can be observed in the muscle the targeted cortical area controls. The inhibitory effect entails a transient interruption of neural drive to the muscle. This interruption, called the "silent period", lasts for less than half a second and results in the relaxation of the muscle. Muscle activity and control quickly return to normal after the silent period. The elegance and main advantage of TMS-induced muscle relaxation lies in the fact that it excludes all voluntary influences on the relaxation process. Furthermore, the TMS pulse causes all muscle fibres involved in the contraction just prior to the onset of the silent period to relax simultaneously. This allows us to study muscle relaxation as only a property of the muscle, i.e. without voluntary influences. In this study, the investigators will measure muscle relaxation in several myopathies (McArdle disease, Nemaline myopathy type 6 and myotonic dystrophy type 2) and compare this to healthy controls and to controls with no myopathy but with similar complaints (myalgia, stiffness, cramps). The data from these two control groups has been gathered previously in a different study. The investigators will also compare this to patients suffering from Brody disease who were previously measured in a different study. Muscle relaxation will be evaluated in fresh and fatigued finger flexor muscles. The main outcome of this study is the peak relaxation rate normalized to the peak force preceding relaxation. The final outlook of this research is to evaluate whether muscle relaxation studied with TMS, can be used for different myopathies as a diagnostic tool, to monitor disease progression, and to study the effects of different interventions (e.g. medication, exercise).
The aim of the project is to develop new Magnetic Resonance (MR) imaging techniques for better diagnosis and monitoring of patients with muscular disorders. Muscle quality in patients with Late Onset Pompe Disease (Acid Maltase Deficiency type 2) and in patients with Myotonica Dystrophy will be evaluated, by determining muscle strength in relation to muscle size and muscle strength in relations to fat-muscle ratio.
The purpose of the study is to investigate if treatment with L-Tyrosine improves selected outcome measures of TNNT1 myopathy.
The investigators laboratory has been studying families with a history of ALS for more than 30 years and is continuing to use new ways to understand how genes may play a role in ALS, motor neuron disease and other neuromuscular disorders. The purpose of this study is to identify additional genes that may cause or put a person at risk for either familial ALS (meaning 2 or more people in a family who have had ALS), sporadic ALS, or other forms of motor neuron disease in the hopes of improving diagnosis and treatment. As new genes are found that may be linked to ALS in families or individuals, the investigators can then further study how that gene may be contributing to the disease by studying it down to the protein and molecular level. This includes all forms of ALS, motor neuron disease and ALS with fronto-temporal dementia(ALS/FTD). We also continue to study other forms of neuromuscular disease such as Miyoshi myopathy, FSH dystrophy and other forms of muscular dystrophy by looking at the genes that may be associated with them. There have been a number of genes identified that are associated with both familial and sporadic ALS, with the SOD1, C9orf72, and FUS genes explaining the majority of the cases. However, for about 25% of families with FALS, the gene(s) are still unknown. The investigators also will continue to work with families already identified to carry one of the known genes associated with ALS.