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Essay / Muscular Dystrophy Essay - 1843
Emery-Dreifuss Muscular DystrophyEmery-Dreifuss muscular dystrophy is a rare form of muscular dystrophy characterized by early contractures of the elbows, Achilles tendons, and post muscles. -cervical with progressive muscle atrophy and weakness. also associated with cardiac complications such as cardiomyopathy and arrhythmia which in both cases can lead to death. Cardiomyopathy is a heart disease that affects the muscles of the heart. In cardiomyopathy, muscles become stiff, hypertrophied, or thick. They are also sometimes modified by scar tissue. On the other hand, arrhythmia is a disorder of the rhythm or heart rate. The heart may beat quickly, called tachycardia, or it may beat too slowly, called bradycardia. Emery-Dreifuss muscular dystrophy is characterized by the early onset of contractures and humeroperoneal distribution. Humeroperoneal refers to the effects on the humerus and fibula. The genes known to be responsible for EDMD encode proteins associated with the nuclear envelope: emerin and lamins A and C. CauseEmery-Dreifuss muscular dystrophy is a genetic disease. It can be expressed in three forms. These forms are: X-linked formAutosomal dominant formAutosomal recessive formXL-linked formThe The EMD gene is located on chromosome Xq28. The gene responsible for the X-linked form was identified in 1994. It is located on chromosome Xq28. The STA gene is 2,100 bp long, consists of six exons, and encodes a 762 bp mRNA. Its 34 kD protein product composed of 254 amino acids was called “emerin”. Emerin is a protein that is part of the laminar association protein family. The...... middle of paper...... to clinical management )At a younger age, muscles become established and burned in many parts of the body, making life difficult for people affected. This emaciation begins on the face and continues to the shoulders where it is more severe. But these are not the only effects that infantile facioscapulohumeral muscular dystrophy has on the individual. Infantile facioscapulohumeral muscular dystrophy also has non-muscular effects. A person diagnosed with this disorder will have vision problems, hearing loss, and sometimes seizures. Treatments for Facioscapulohumeral Muscular Dystrophy There are no real treatments or pharmaceutical cures for facioscapulohumeral muscular dystrophy. The only way to deal with this disorder is to treat the side effects it causes and prevent any further complications resulting from the onset of facioscapulohumeral muscular dystrophy..