Emery-Dreifuss muscular dystrophy is a disease transmitted byautosomal dominant, recessive (rarely) or X-linked. The incidenceis not known. Women can be carriers, but only men can beaffected with the clinical forms of X-linked transmission. GeneEmery-Dreifuss dystrophy involved in coding for a protein callednuclear membranes emerina.
Amyotrophy (muscle atrophy) and weakness may occur before the age of 20 years, usually affecting the arm muscles (biceps, triceps)and more rarely, the muscles of the legs. Emery-Dreifuss dystrophycan affect the heart, involving paralysis fibrillation, conduction abnormalities (atrioventricular block), cardiomyopathy (damage toheart muscle) and an increased risk of sudden death.
Diagnosis is based on clinical data, age of onset, family historyand are supported by the slight increase in the level of serumcreatinine by electromyography and muscle biopsy. DNA testsconfirm the diagnosis.
Treatment aims to prevent contractures. Using a pacemaker(pacemaker) is indicated in patients with conduction disturbances(AV block).
Monday, May 30, 2011
Muscular dystrophy belt
Muscular dystrophy belt comprises a group of diseases that affectmuscles and pelvic girdle (shoulder and hip muscles). The diseasecan then reach the limb muscles, but its evolution is slow.
The disease is autosomal recessive nature (rarely dominant) and therefore affects both sexes equally and usually begins inadolescence or at age 20 -30 years. In autosomal recessivecases, symptoms tend to settle in childhood. Intellectualcapabilities are not affected.
Treatment focuses on preventing contractures.
The disease is autosomal recessive nature (rarely dominant) and therefore affects both sexes equally and usually begins inadolescence or at age 20 -30 years. In autosomal recessivecases, symptoms tend to settle in childhood. Intellectualcapabilities are not affected.
Treatment focuses on preventing contractures.
Muscular dystrophy - Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is the most common form ofmuscular dystrophy, affecting about three boys in 1000. It is ahereditary disease with autosomal recessive transmission linkedto chromosome X. Therefore, Duchenne myopathy affects onlymale infants.
The disease is caused by a faulty gene which causes deficiency of a protein called dystrophin. The absence of dystrophin leads to theappearance of lesions of the membranes covering the muscle cells(myocytes), involving the degeneration and necrosis of musclefibers miocitara.
In some cases, the disease manifests dystrophy since the embryonic stage, but in others, it occurs after age 3 or 4 years.Affected children require more time to learn to walk than normal.They have a roll, or peaks and difficulty in climbing stairs, runningor lifting from the ground. Fall trend is pronounced.
After the first symptoms, the disease progresses rapidly. Notecontractures (involuntary contractions) and scoliza. Despite theweakness, muscle fibers appear hypertrophied by replacing thelost muscle or fat tissue. At age 12, children lose their ability towalk and are immobilized in a wheelchair. In one third of cases are found and impaired intellectual function (especially verbal skills).Generally, death occurs at 20 years due to respiratorycomplications and heart failure.
The disease is caused by a faulty gene which causes deficiency of a protein called dystrophin. The absence of dystrophin leads to theappearance of lesions of the membranes covering the muscle cells(myocytes), involving the degeneration and necrosis of musclefibers miocitara.
In some cases, the disease manifests dystrophy since the embryonic stage, but in others, it occurs after age 3 or 4 years.Affected children require more time to learn to walk than normal.They have a roll, or peaks and difficulty in climbing stairs, runningor lifting from the ground. Fall trend is pronounced.
After the first symptoms, the disease progresses rapidly. Notecontractures (involuntary contractions) and scoliza. Despite theweakness, muscle fibers appear hypertrophied by replacing thelost muscle or fat tissue. At age 12, children lose their ability towalk and are immobilized in a wheelchair. In one third of cases are found and impaired intellectual function (especially verbal skills).Generally, death occurs at 20 years due to respiratorycomplications and heart failure.
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