The muscular dystrophies are a collection of inherited ailments defined by progressive muscle degeneration and weakness. Of the 9 muscular dystrophies, Duchenne muscular dystrophy (DMD) is the most common. DMD is an X-linked recessive ailment which presents in initial childhood and inexorably progresses. DMD is triggered by changes in the dystrophin gene (situated on the X-chromosome) which leads to the absence of dystrophin, a structural protein that helps keep muscle cells integral. It affects boys more often than girls, generally appearing between 3-5 years of age. Specialists estimate that 1 out of 3600 boys are born with Duchenne's.
Symptoms
Maximum patients have symptoms by age 3 years and might appear as early as infancy. DMD principally presents itself in kids with postponements in motor milestones which consist of sitting and standing. Because of progressive muscle feebleness allied with loss of muscle mass, kids might be seen with an odd wobbling gait and amplified trouble in standing up or climbing stairs. The lower extremities are affected more sternly than upper body though muscle feebleness ascends in arms and neck. Back and chest malformations might also be present as the muscles in the trunk fail to hold the body in a right position. Calf muscles primarily expand and the enflamed muscle tissue is sooner or later replaced with fat and connective tissue (pseudohypertrophy). There is an obvious stable drop in muscle strength between the ages of 6 and 11 years. By then, braces might be needed for walking and ultimately will be limited to a wheelchair. Bones develop oddly, instigating skeletal malformations of the spine and other zones. This in turn results in respiratory ailments. Cardiomyopathy befalls in virtually all cases by the time the person is in his adolescent years. Intellectual injury might transpire.
Treatment
While there is no treatment, numerous measures can be taken to improve the quality of life for the individual with this ailment. Treatment is normally directed at controlling the beginning of symptoms to maximize the quality of life. Physical therapy and remaining as active as possible are typically needed to keep the muscles from weakening at a rapider rate. Regular assessments help doctors keep up with the heart and respiratory system as the kid matures to treat problems as they ascend. Bracing is often needed to be able to walk. Presently there is substantial ongoing research which embraces exon-skipping, stem cell muscular dystrophy treatment, gene replacement and supportive care to slow infection progression.
