Active clinical trials for "Muscular Dystrophies"

The task consists in reach as much bubbles as they can, the bubbles appear on the screen of the computer and should be reached in 10 seconds. To accomplish that, three different devices will be used: (1) Kinect for Windows Microsoft - which consists of a sensor that captures body movements (including upper limbs). And (2) the Leap Motion (LMCH, Leap Motion, Inc., San Francisco, CA, USA), and (3) Touch Screen. To describe motor impairments was used the Motor Function Measure Scale; Scale Vignos and Scale Egen Klassifikation;

Mitochondrial disorders are a group of inherited disorders causing malfunctional mitochondria. Mitochondria are found in every cell of the body, and the disorders therefore give symptoms from every tissue, especially those with high energy needs as the brain, heart and muscles. The symptoms are often unspecific in terms of muscle weakness and fatigue, which delays the first contact to the doctor and further delays the diagnosis. The aim of this study is to investigate if it is possible to use GDF-15 (Growth and Differentiation Factor 15) as a biomarker for mitochondrial disease and compare the results with that of healthy controls, metabolic myopathies and muscular dystrophies. The concentration relative to exercise will further be investigated.

Background: - Neuromuscular diseases (NMDs) do not have cures. But future treatments will try to improve the health-related quality of life (HRQoL) in people with NMD. Computer questionnaires can help test HRQoL in people with NMD. They could help clinicians and researchers know how people with NMD and their caregivers are doing. They could also help show if treatments are making a difference. Researchers want to make sure two of these questionnaires PROMIS (Patient Reported Outcomes Measurement Information System) and Neuro-QOL (Quality of Life in Neurological Disorders) work the same way every time. They also want to make sure the questionnaires test the same things every time. Objective: - To make sure the PROMIS and Neuro-QOL questionnaires are valid. Eligibility: - Children age 8 17 who have NMD. Also, caregivers of children age 5 17 who have NMD. Design: Participants will complete the PROMIS and Neuro-QOL questionnaires on a computer. The caregiver and child versions are not the same. Participants will complete the questionnaires at the beginning of the study. It will take about 15 20 minutes. They will complete the questionnaires again after 2 4 weeks. They may receive phone or email reminders. Participants will complete the questionnaires at the NIH outpatient clinic and/or on their own device. At NIH, they will use a computer or tablet.

Background: - Children with Duchenne/Becker Muscular Dystrophy (DBMD) slowly lose muscle function. They usually die at a young age. Some mothers adapt to the demands of caring for a child with this disease better than others. Studies show that a person s hope may positively affect how they cope and adapt. Researchers want to find out more about this. They want to develop ways to improve caregivers overall wellness. Objective: - To study the relationships between uncertainty, hope, and coping ability in mothers of children with DBMD. Eligibility: - Women in the United States 18 years and older. They must be biological mothers of a living child with DBMD and be able to answer a survey in English. Design: This study is part of a larger study that examines the well-being of mothers with sons who have DBMD. Participants will take a questionnaire. The questionnaire can be done on paper or on a computer. It will take 30 45 minutes to complete. The questionnaire will include basic demographic questions about the participant and the child. There will also be questions about how the participant copes with the stress and uncertainty of DBMD. For most of the questions, participants will rate their feelings on a scale. There will also be four open-ended questions.

"Observational study of clinical outcomes for testosterone treatment of pubertal delay in Duchenne Muscular Dystrophy" is a single centre observational study that aims to follow the progress of 20 adolescents with Duchenne Muscular Dystrophy (DMD) and delayed puberty who are treated by the Newcastle muscle team, as they are treated with testosterone to induce puberty. The participants will all be treated with the standard stepwise regimen of testosterone injections every 4 weeks and data will be collected to help determine the effectiveness and tolerability of the current treatment regimen. The investigators will use the data to explore the effect of testosterone on pubertal development, growth, muscle strength and function, bone mineral density and body composition and characterise any side effects. Semi-structured interviews will also be carried out to learn the boys' views on the tolerability of the regimen. The study will last up to a maximum of 27 months in total for each participant, but may be less if they are happy with pubertal development before this time. It is important to do this study because from the investigator's limited experience in this group, testosterone treatment seems to be well liked and tolerated but the best treatment regimen to use remains unknown and there is no current consensus. It is not currently part of the standard of care in DMD but it would be important to include it if this study can show that it is an effective treatment for pubertal delay.

The purpose of this study is to understand more about limb-girdle muscular dystrophy. Therefore, the investigators would like to track the following information collected once a year from patients with GENETICALLY CONFIRMED LGMD: quality of life questionnaires, muscle strength, motor function, routine examination, assessment of patient (or parent) understanding of LGMD, and serum (blood) for growth factors, cytokines, and biomarkers (all parts of your blood). By tracking this information, we hope to be able to understand more about the diagnosis, progression and natural history of this disorder.

The safety of guided practice of physical activity in myopathies is increasingly accepted, including muscular dystrophies. In facioscapulohumeral dystrophy (FSHD), one of the most common muscular dystrophy, the aerobic training showed its physiological and functional efficiency without affecting the quality of life of patients. The issue of exercise therapy extended to all neuromuscular diseases, as has been rigorously analyzed, shows that the use of a training program combining endurance exercise targeted exercises and strength is even more relevant. To complete the multidimensional assessments be managed by each team ( physiological assessments, functional tissue and quality of life) it is relevant to continue , for a descriptive study quantitative and qualitative analyzes by muscle imaging and spectroscopy (MRI and Nuclear Resonance Imaging (NMR) spectroscopy ).

This is a pilot clinical trial to assess the ability of a new ultrasound-based imaging method, Double-Push Acoustic Radiation Force (DP ARF) ultrasound, to monitor the progression of Duchenne muscular dystrophy. The hypothesis being tested is that DP ARF ultrasound delineates changes in muscle composition and function in individual dystrophic muscles, from early through late stages of disease development, that correlate to time to loss of ambulation in patient volunteers.

The investigator investigated the effect of lower limb flexibility on functional performance of children with Duchenne Muscular Dystrophy.

The aim of this study, determining the factors affecting the hand functions of children with Duchenne Muscular Dystrophy who have lost their independent ambulatory ability and determining the effects on the overall upper extremity performance and quality of life of the determined factors.