Information,Limb-Girdle,Muscul health Information on Limb-Girdle Muscular Dystrophy
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Limb-girdle muscular dystrophy is known hereditarily heterogeneous. LGMD2A is caused by mutations on chromosome 15 in the calpain-3 gene. There are at least 19 forms of LGMD, and theyre classified by the inherited flaws that show to cause them. Limb-girdle muscular dystrophy can begin in childhood, adolescence, young adulthood or even later. Both genders are affected equally. When limb-girdle muscular dystrophy begins in childhood. Its not yet possible to predict the course of LGMD in an individual. Some forms of the disorder progress to loss of walking ability within a few years and cause sedate disability, while others progress very gradually over many years and cause minimal disability. Signs and symptoms muscular dystrophy symptoms may involve muscle weakness, apparent lack of coordination and progressive crippling, resulting in fixations (contractures) of the muscles around your joints and loss of mobility. Limb-girdle muscular dystrophy (LGMD) protein defects occur in several pathways involved in the biologic function of muscle and can be divided into groups based on cellular localization. These comprise proteins linked with the sarcolemma, proteins associated with the contractile apparatus, and many enzymes involved in muscle function. However, although the main defect in many LGMDs is known, the exact mechanism leading to the dystrophic phenotype has not always been clarified. Specific protein function and abnormalities are discussed below with each LGMD. No specific treatment is available for any of the LGMD syndromes. Treatment for LGMD, mainly involving physical assistive devices, and monitoring for heart and breathing complications, is basically the same in all forms of the disease. Management to prolong survival and improve quality of life includes weight control to avoid obesity, physical therapy and stretching exercises to encourage mobility and prevent contractures. Use of mechanical aids to help ambulation and mobility. Patients who develop an equinus foot deformity can benefit from tendon lengthening surgery and/or knee-ankle-foot orthoses or ankle-foot orthoses to maintain mobility. Orthopedic surgery may be required to assist correct or prevent contractures and scoliosis. Genetic counseling is frequently helpful to patients and families to help in family-planning decisions.
Information,Limb-Girdle,Muscul