limb-girdle muscular dystrophies…

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superficial anterior muscles, muscular dystrophy, limb-girdle type, limb-girdle muscular dystrophies include at least 10 different inherited disorders that initially affect the muscles around the shoulder girdle, hips, progressive, involve other muscles, a period of time, large group of genetic diseases featuring muscle weakness, wasting, muscular dystrophy, inherited in an autosomal recessive manner, parents must have the defective gene, child to inherit it, autosomal dominant, one parent needs to carry the bad gene to affect the child, defective gene has been discovered, gene is not yet known, onset of pelvic muscle weakness, difficulty standing, a sitting position, using arms, difficulty climbing stairs, starts in childhood to young adulthood, later there, onset of shoulder weakness, progression to significant loss of mobility, wheelchair dependence over the next 20-30 years, an important risk factor is having a family member, muscular dystrophy, muscle weakness in pelvis, hips, upper legs, shoulders, loss of muscle mass, in the same areas, thinning of those body parts, low back pain, abnormal, waddling, gait walking, later in disease, facial muscle weakness, in the disease, muscles, the lower legs, feet, lower arms, hands, become weak, in the disease, contractures of joints, become fixed, contracted position, palpitations, passing out spells, abnormal heart rhythms, the calves, look large, muscular, pseudohypertrophy, not strong, normal muscle biopsy, dystrophin, protein that is defective, in the more common duchenne muscular dystrophy, electromyogram, emg, testing shows a pattern, myopathy, sick, dying muscle fibers, high blood creatine kinase levels, muscle biopsy shows degenerating muscle, splitting of muscle fibers, presence of cells, the immune system, phagocytes, less common muscular dystrophies, heart, weakness on echocardiogram, heart failure, abnormal rhythm on ecg, no known treatments that directly reverse the muscle weakness, gene therapy, become available, in the future, supportive treatment, decrease the complications, muscular dystrophy association, excellent resource, 800-572-1717, large group of related but distinct diseases, expected, slow progression, of weakness, worsens in affected muscles, spreads, progresses further, heart muscle weakness, tendency to have abnormal electrical activity, the heart, increase the risk of palpitations, fainting, sudden death, most patients, group of diseases live into adulthood, not reach full life expectancy, progressive weakness, results in requiring a wheelchair, difficulties, activities of daily living, due to shoulder weakness, contractures, due to decreased muscle movements, joint use, abnormal heart rhythms, child note weakness rising, a squatting position, call a geneticist, a family member have a diagnosis of muscular dystrophy, planning a pregnancy, genetic counseling, prevent some cases, the complications, prevented by appropriate treatment, a cardiac pacemaker, defibrillator, significantly reduce the risk of sudden death, due to an abnormal heart rhythm, physical therapy able, prevent, delay contractures.