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An Introduction to Duchenne Muscular Dystrophy The muscular dystrophies are a band of inherited disorders described by progressive muscle degeneration and weakness. Of the 9 muscular dystrophies, Duchenne muscular dystrophy is the most common. DMD can be an X-connected recessive condition which presents in early childhood and inevitably progresses. DMD can be caused by mutations in the dystrophin gene which results in the absence of dystrophin, a structural protein that helps maintain muscle cells intact. It affects boys more frequently than girls, usually appearing between 3-5 years of age. Experts estimate that 1 out of 3600 boys are born with Duchenne’s. Symptoms Most patients have symptoms by age 3 years and may appear as early as infancy. DMD primarily presents itself in children with delays in electric motor milestones such as standing and sitting. Owing to progressive muscle weakness associated with loss of muscle tissue, children may be seen with a unusual waddling gait and improved difficulty in taking a stand or climbing stairs. The lower extremities are affected more severely than upper body though muscle weakness arises in neck and arms. Back and chest deformities can also be present as the muscle groups in the torso fail to hold the body in a correct position. Calf muscles initially enlarge and the enlarged muscle tissue is eventually replaced with extra fat and connective tissue . There exists a noticeable regular decline in muscle strength between your ages of 6 and 11 years. At that time, braces may be required for walking and will be confined to a wheelchair eventually. Bones develop abnormally, causing skeletal deformities of the spine and other areas. Therefore prospects to respiratory disorders. Cardiomyopathy occurs in virtually all full cases by the time the individual is in his teenage years. Intellectual impairment may occur. Breathing problems and cardiomyopathy are common causes of death for patients affected with DMD. Diagnosis The original investigation for DMD is normally evaluation of serum CK. Great levels of CK indicate DMD. For a more accurate diagnosis a combination of Genetic analysis, muscle biopsy and detailed medical observation of muscle power and function is definitely advocated. Since mutations can be transmitted to the offspring only through the mother, prenatal tests can identify common mutations in the unborn kid. Treatment While there is no cure, several measures could be taken to improve the standard of living for the person with this disease. Treatment is generally targeted at controlling the onset of symptoms to increase the quality of lifestyle. Physical therapy and staying as active as possible are often necessary to keep the muscle groups from deteriorating quicker. Regular evaluations help doctors keep an eye on the heart and the respiratory system as the kid matures to take care of issues as they arise. Bracing is required to be able to walk often. Wheelchairs enable mobility if they are no in a position to use braces longer. There is considerable ongoing research which include exon-skipping Currently, stem cell substitute therapy, analog up-regulation, gene substitution and supportive treatment to gradual disease progression. Recognizing the symptoms early on can help parents begin treatment as soon as possible. Early diagnosis is important so these treatments will start promptly.