duchenne muscular dystrophy…

Medical experts recommend this detailed explanation.

[ Find Organization | Index Page ]

x-linked recessive genetic defects, how boys, x-linked recessive genetic defects, how girls, x-linked recessive genetic defects, pseudohypertrophic muscular dystrophy, muscular dystrophy, duchenne type, duchenne muscular dystrophy, inherited disorder characterized by rapidly progressive muscle weakness which starts, in the legs, pelvis, later affects the whole body, duchenne muscular dystrophy, rapidly progressive form of muscular dystrophy, a defective gene, occurs in people from families, a known family history, marked by progressive loss of muscle function, in the lower limbs, the muscle impairment, abnormal gene, dystrophin, a protein, in the muscles, duchenne muscular dystrophy is inherited in an x-linked recessive pattern, women have two x chromosomes, one contains a normal copy, the gene, gene, make enough, the protein, prevent symptoms, boys have an x chromosome from mother, a y from father, x chromosome is defective, no second x to make up, develop the disease, sons of carrier females, women, one defective chromosome but no symptoms themselves, each have a 50% chance of having the disease, daughters each have a 50% chance of carriers, appear, age 6, appear, infancy, progressive muscle weakness, the legs, pelvis, is associated, a loss of muscle mass, wasting, muscle weakness also occurs, in the arms, neck, areas, severely, in the lower half, calf muscles initially enlarge, the enlarged muscle tissue is eventually replaced by fat, connective tissue, pseudohypertrophy, muscle contractures occur, in the legs, rendering the muscles unusable, the muscle fibers shorten, fibrosis occurs in connective tissue, appear in boys aged 1-6, by age 10, braces required, walking, by age 12, most patients, confined to a wheelchair, bones develop abnormally, causing skeletal deformities, the spine, areas, muscular weakness, skeletal deformities contribute to frequent breathing disorders, cardiomyopathy occurs in all cases, intellectual impairment, not inevitable, does not worsen, the disorder progresses, duchenne muscular dystrophy occurs in approximately 2 out of 10,000 people, an inherited disorder, family history of duchenne muscular dystrophy, becker muscular dystrophy, form that progresses much more slowly, muscle weakness, rapidly progressive, frequent falls, motor skills, running, hopping, jumping, progressive difficulty walking, ability to walk lost by age 12, fatigue, intellectual retardation, skeletal deformities, chest, scoliosis, muscle deformities, contractures of heels, legs, pseudohypertrophy of calf muscles, muscle wasting, atrophy, in the legs, pelvis, progresses, muscles, the shoulders, neck, followed by loss of arm muscles, respiratory muscles, calf muscle enlargement, pseudohypertrophy, quite obvious, cardiomyopathy is commonly present, signs of congestive heart failure, arrhythmias, irregular heartbeats, rare, respiratory disorders, common, later stages, pneumonia, aspiration of food, fluid, lungs, a serum cpk is highly elevated, a neurologic exam demonstrates weaness, lack of coordination, balance, an emg, electromyography, weakness, destruction of muscle tissue rather than nerve damage, a muscle biopsy confirms the diagnosis, no known cure, duchenne muscular dystrophy, treatment is aimed at control of symptoms to maximize the quality of life, gene therapy, become available, in the future, activity is encouraged, inactivity, bedrest, worsen the muscle disease, physical therapy helpful to maintain muscle strength, function, orthopedic appliances, braces, wheelchairs, improve mobility, ability, self-care, stress of illness, helped by joining a support group where members share common experiences, muscular dystrophy, support group, muscular dystrophy association, excellent source of information on this disease, duchenne muscular dystrophy results in rapidly progressive disability, death, occurs by age 25, from respiratory, lung, disorders, deformities, permanent, progressive disability, decreased mobility, decreased ability, self-care, mental impairment, minimal, pneumonia, respiratory infections, respiratory failure, cardiomyopathy, congestive heart failure, rare, heart arrhythmias, rare, symptoms indicate duchenne muscular dystrophy, symptoms worsen, new symptoms develop, particularly fever, cough, breathing difficulties, genetic counseling is advised, family history, the disorder, duchenne muscular dystrophy, detected, 95% accuracy by genetic studies performed, pregnancy.