Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy is a genetic defect on the short arm of the X chromosome has been identified in Duchenne dystrophy. The affected gene codes for the protein dystrophin, which is markedly reduced or absent from the muscle of patients with the disease. Dystrophin levels are generally normal in the Becker variety, but the protein is qualitatively altered. Eventually this weakness also makes walking more difficult and a wheelchair is needed. Gradually all the muscles become very weak including the muscles used for breathing and the heart.

Duchenne muscular dystrophy (DMD) was first described by the French neurologist Guillaume Benjamin Amand Duchenne in the 1860s. By the early teens or even earlier, the boy's heart and respiratory muscles may also be affected. Weakness and disability are more severe in DMD and in BMD. Becker dystrophy is like a less severe form of Duchenne dystrophy Approximately two-thirds of the mutations in both forms are deletions of one or many exons in the dystrophin gene. Then the parents are likely to be worried about something unusual in the way he walks, about frequent falling or about difficulty rising from the ground or difficulty going up steps. A milder form of this disease is known as Becker's muscular dystrophy (BMD). The most distinctive feature of Duchenne muscular dystrophy is a progressive proximal muscular dystrophy with characteristic pseudohypertrophy of the calves.

One of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles. The subsequent immune response can add to the damage The subsequent immune response can add to the damage. . One third of the cases are known to be caused by development of spontaneous mutations in the dystrophin gene, while the remainder are inherited Duchenne muscular dystrophy can now be recognized early in pregnancy in about 95% of women by genetic studies; in late pregnancy, DNA probes can be used on fetal tissue obtained for this purpose by amniocentesis. The cause of the muscle impairment is an abnormal gene for dystrophin (a protein in the muscles). During the early stages, physical therapy, joint bracing, and the medication prednisone are often used. During the later stages, doctors may use assistive devices such as:

• physical therapy and bracing to improve your child's flexibility
• power wheelchairs and scooters to improve your child's mobility
• a ventilator to support your child's breathing
• robotics to help your child perform routine daily tasks

Cause of Duchenne Muscular Dystrophy

The exact cause is unknown but it is mainly caused by a change in the dystrophin gene. This change is referred to as a mutation. But boys have an X chromosome from their mother and a Y from father, so if the X chromosome is defective, there is no second X to make up for it and they will develop the disease. Each form of muscular dystrophy is caused by a genetic mutation that's particular to that type of the disease. Here are the list of the possible cause of Duchenne Muscular Dystrophy:

• Genes contain codes, or recipes, for proteins , which are very important biological components in all forms of life
• An absence of dystrophin, a protein that helps keep muscle cells intact.
• Having some dystrophin protects the muscles of those with Becker from degenerating as badly or as quickly as those of people with Duchenne.
• The cells in our body contain a list of instructions stored as units of information called gene.
• When there is a mutation in the dystrophin gene, the protein dystrophin does not work.
• People with BMD have some dystrophin, but it's not enough or it's poor in quality.
• DMD and BMD cause similar patterns of weakness and disability and are inherited in the same way

Symptoms of Duchenne Muscular Dystrophy

Each type has its different symptoms depending among the causes. Symptoms usually appear in boys aged 1-6. By age 10, braces may be required for walking, and by age 12, most patients are confined to a wheelchair. Bones develop abnormally, causing skeletal deformities of the spine and other areas. Symptoms usually appear in boys aged 1-6. By age 10, braces may be required for walking, and by age 12, most patients are confined to a wheelchair. Bones develop abnormally, causing skeletal deformities of the spine and other areas. Signs and symptoms of Duchenne MD may include:

• Frequent falls
• Large calf muscles
• Difficulty getting up from a lying or sitting position
• Weakness in lower leg muscles, resulting in difficulty running and jumping
• Waddling gait
• Mild mental retardation, in some cases

Treatment of Duchenne Muscular Dystrophy

There is no specific treatment for the muscular dystrophies, but it is important to encourage patients to lead as normal lives as possible. Prolonged bed rest must be avoided, as inactivity often leads to worsening of the underlying muscle disease. Physical therapy and orthopedic procedures may help to counteract deformities or contractures. There's no cure for muscular dystrophy, but medications and therapy can slow the course of the disease. The different types of muscular dystrophy affect different sets of muscles and result in different degrees of muscle weakness. Physical therapy may be helpful to maintain muscle strength and function. Orthopedic appliances (such as braces and wheelchairs) may improve mobility and the ability for self-care.

• Though there is not any treatment right now that significantly prolongs life or cures the disease, there are a number of clinical trials in progress
• Physical and occupational therapy may be helpful to maintain muscle strength and function.
• Intensive research to find a cure is carrying on in many centres around the world
• Sometimes surgery is needed to release tight, painful muscles.
• Treatment is aimed at control of symptoms to maximize the quality of life.
• Physical therapy may be helpful to maintain muscle strength and function
• In addition, there is research and clinical trials looking into the effectiveness of human embryonic stem cell transplants. 

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