Muscle MRI in Becker Muscular Dystrophy and in Limb-girdle Muscular Dystrophy Type 2I
Becker Muscular DystrophyLimb-Girdle Muscular Dystrophy Type 2IThe purpose of this study is to investigate the paradoxical muscle enlargement in the calves and tongue seen in patients affected by Becker muscular dystrophy and Limb-girdle muscular dystrophy type 2I. The enlarged calves' muscle quality will be assessed primarily on the basis of the muscle structure on MRI and based on a calculation of muscle strength per cross-sectional area.The findings will be compared with results from non-affected controls. Additionally we want to describe the tongue muscle appearance on T1-weighted MRI.
MRI and Muscle Involvement in Patients With Mutations in GMPPB
Limb-girdle Muscular DystrophyLimb girdle muscular dystrophies (LGMD) are a very heterogeneous group of muscle disorders characterized by muscle weakness and atrophy of the proximal muscles of the shoulder and pelvic girdles. LGMD is classified based on its inheritance pattern and genetic cause into more than 31 different types. A new type - type 2T has been found. The genetic cause of type 2T is mutations in Guanosine Diphosphate (GDP)-mannose pyrophosphorylase B (GMPPB). Mutations in GMPPB can also cause Congenital muscular dystrophies (CMD). Only 41 patients with mutations in GMPPB has been reported. In this study, the investigators examine five new cases with the LGMD phenotype. The primary aim is to examine the muscle involvement using MRI.
Studies of Patients With Skin Disease, Patients With Neurological Degenerations, and Normal Volunteers...
HealthyMuscular Dystrophy3 moreIt is proposed that patients with skin disease due to presumed immunologic, genetic or viral-induced abnormalities, patients with neurological degenerations, and normal controls be evaluated with various in vitro studies of immunologic, genetic, and virologic function. This is to include studies of peripheral blood (cells and serum) as well as studies of skin obtained with a biopsy instrument. In addition, studies of gastrointestinal function will be performed where appropriate.
Expanded Access Protocol for Boys With Duchenne Muscular Dystrophy
Duchenne Muscular DystrophyThe intent of this protocol is to provide continued access to vamorolone for subjects in the United States who Have Completed the VBP15-LTE, VBP15- 004, or VBP15-006 protocols (and are thereby ineligible to enroll in another trial ofvamorolone therapy), during the time a new drug application for vamorolone is under preparation and review.
Biomarker Development in LGMD2i
Muscular DystrophiesLimb Girdle Muscular DystrophyThe overall goal of this natural history study is to define the key LGMD2i phenotypes as measured by standard clinical outcome assessments (COAs), and to validate a muscle biomarker for LGMD2i to support therapeutic development.
Comprehensive Study of Duchenne Muscular Dystrophy at Sohag University Hospital
Duchenne Muscular DystrophyMuscular dystrophies are a heterogenous group of inherited muscular disorders characterized by progressive muscle weakness. Historically, these disorders are difficult to treat. In the last three decades, there is a great progress in molecular and genetic basis of these disorders; early diagnosis is achievable with proper clinical recognition and advanced genetic testing .Duchenne Muscular Dystrophy (DMD) is a neuromuscular muscular X-linked recessive disorders that belong to a group of disorders known as dystrophinopathies. DMD characterized by a progressive degeneration of skeletal muscles, with symptoms that manifest early, at around 3 years, causing loss of ambulation within the 13 years of life, followed by cardiac complication (e.g., dilated cardiomyopathy and arrhythmia) and respiratory disorders, including chronic respiratory failure. The unique medical treatment available is steroid therapy, which appears to prolong walking capacity by at least two years. Thus, besides medical treatment, the physical therapy in multidisciplinary care is imperative for alleviating muscle atrophy, skeletal deformities, and motor function deterioration.
Digestive Events in Duchenne Muscular Dystrophy Patients
Duchenne Muscular DystrophyRelation between clinical and genetic features and acute digestive events in Duchenne muscular dystrophy patients
Examination of Lower Urinary System Symptoms With Duchenne Muscular Dystrophy
Duchenne Muscular DystrophyLower Urinary Tract Symptoms5 moreThe aim of this study is to examine the prevalence of lower urinary tract symptoms (LUTS) in children with Duchenne Muscular Dystrophy (DMD) and the relationship between functional level, posture, muscle strength, pelvic floor muscle control, participation in activities of daily living, and quality of life that may be associated with these symptoms. Forty-five children with DMD between the ages of 5-18 (Age: 9.00±3.32 years, Weight: 31,10±12,59 kg, Height: 125,87±18,46 cm) and their families were included in the study. LUTS was assessed with Dysfunctional Voiding And Incontinence Scoring System, functional level with Brooke Upper Extremity Functional Classification and Vignos Scale, posture with the New York Posture Assessment Questionnaire, Baseline Bubble Inclinometer (10602, Fabrication Enterprises Inc. New York, USA) and Baseline Digital Inclinometer (12-1057, Fabrication Enterprises Inc, New York, USA), participation in activities of daily living was assessed with the Barthel Index and quality of life was assessed with the Pediatric Quality of Life Inventory 3.0 Neuromuscular Module. Also, using the Hoggan microFET2 (Hoggan Scientific, LLC, Salt Lake City UT, USA) device, hip flexors, quadriceps femoris muscles, shoulder flexors, elbow extensors, elbow flexors, trunk extensors and flexors were evaluated in terms of muscle strength. Evaluations were made once, and the associated factors were compared in the group with and without LUTS, and the relationship between the factors and the severity of LUTS was examined.
Bone Health in Facioscapulohumeral Muscular Dystrophy
Facioscapulohumeral Muscular DystrophyThis is a cross-sectional single visit study to determine bone health in individuals with FSHD.
Innovative Ultrasound Technology in Neuromuscular Disease
Amyotrophic Lateral SclerosisMuscular Dystrophy5 moreThis study is utilizing ultrasound measurement to measure neuromuscular disease status in adult patients. The hypothesis is the by quantifying ultrasound data, it is possible that ultrasound can be utilized as a tool to determine if a disease is responding to therapy or progressing.