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R.I.P Baby brother.

Muscular Dystrophy

NonFiction Created on 5-29-08 Views(64) Story Rating G

    Muscular Dystrophy (MD) is a group of genetic diseases that causes
progressive muscle weakness. There are forty or more different kinds of MD known right now. Most affect boys and all are fatal. MD is caused by missing muscle proteins or smaller then average proteins.

    The first known appearance of MD was by Sir Charles Bell, in 1830, when he wrote an essay about a disease that caused progressive muscle weakness in boys. Six years later, another scientist described two brothers who developed muscle damage, widespread weakness, and replacement of the damaged muscle tissue with connective tissue and fat. At that time, these signs were thought to be signs of tuberculosis. Twenty years later, in the 1850s, the description of boys who grew weaker, lost ability to walk, and who died at an early age was often seen in medical journals. Ten years later, Guillaume Duchenne gave a complete account of 13 boys who had frequent account and the most severe form of MD, Duchenne MD. It soon became knownw that the disease had many forms that affected both male and female and all ages. Many years later in the 1980s, Louis Kunkel started and led the search for the gene that causes muscular dystrophy. In 1986, he and his other coworkers found the gene. The next year, the same team found the gene dystrophin for the first time. In conclusion, in 1988, Kunkel and his group discovered that Duchenne MD was the outcome in deficiency of dystrophin.

    The word "dystrophy" comes from Greek and Latin roots and means "faulty nutrition". Muscle wasting diseases like MD are caused by defects in the genes for muscle proteins. Most of the muscle proteins seem to play a role in supporting the structure of muscle fibers, but some also play a role in the biochemical processes that go on in muscle fibers. There are nine forms of Md that are most known: Mytonic, Duchenne, Becker, Limb- girdle, Facioscapulohumeral, Congenital, Oculopharyneal, Distal, and Emery- Dreifuss. Most names for MD are based on where the disease most effects. The forms vary in severity, age of onset, the muscle first and most often affected, and the deterioration of the involuntary and voluntary muscles which control the movement of the body. In some cases of MD muscles of the heart and other involuntary muscles are affected and sometimes organs are involved, too. In conclusion, MD can affect all ages; some forms might be noticed during childhood or infancy but, some other cases, like Mytonic, happen in later years.

    Every form known of MD is caused by the wasting of muscle tissue. The wasting of muscle tissue is when the muscle cells die and muscles become weaker and are not able to perform the normal functions they would in a normal, healthy body. Researchers believe that many kinds of MD happen because some muscle proteins are not there or are smaller than the average amounts. Some cases, muscle tissue becomes weak and other proteins may be needed to repair the damage caused. If the proteins aren't there to fix the damage the muscles cannot be repaired. In some cases, the connection between the absent muscle proteins or the reduced amounts and other forms of MD aren't known yet. With MD a person might get just one faulty gene from one parent or two faulty genes from both parents. At times, one faulty gene might not cause any problems which if so, that person will just become a carrier and will be able to pass on the gene. Other times, one faulty gene could be all it takes, to mass on some forms of MD such as: Duchenne, Facioscapulohumeral, Oculopharyneal, Distal, and some forms of Limb- girdle MD. Just one faulty gene might make it impossible for the muscle cells to function right.

    All forms of MD have one charateristic in common which is muscular
weakness. Other symptoms are different and depend of the type of MD that the person has. The first symptoms of Duchenne MD appear during preschool or kindergarten. At first, Duchenne will affect the legs of the child, normally a boy, will have problems walking and maintaining his balance. The calf muscles weaken first which causes the child to alter the way he walks. He might spread his legs farther out to help maintain his balance which by doing this will cause him to walk with a waddle which is one of the characteristics of Duchenne MD. Becker MD however usually appears in late childhood to early adulthood. The symptoms however are very similar but are normally less severe. Also, they might develop at a different pattern and rate. For instance, men with Becker MD can walk on their own into their early thirties or twenties. Also, scoliosis can form but, is usually not as harsh and forms slower then men with Duchenne. One serious symptom that men with Becker get involves heart problems. The problems can form calling for mechanical devices to help the patient breathe. Emery- Dreifuss MD begins in early childhood. With first symptoms are permanent shortening of a muscle also known as contractures. Muscle weakness can show in the upper arms, calves, and shoulders. Usually, men with Emery- Dreifuss MD cna live until middle age. But, heart problems can develop and can be the reason for death. In conclusion, there are many more symptoms for the different kinds of MD but all have one symptom in common: death.

    The diagnosis of MD usually begins with a medical history and a physical examination. A medical history is especially important so the doctor can find out if any other family members had MD. Because the disorder is genetic, family patterns are very helpful to diagnose the condition of the illness. A physical examination is needed to rule out any forms with similar symptoms that the pateint has. There are many laboratory tests to diagnose MD, Some tests are: genetic tests, electormyogram, blood levels of creatine kinase, and a muscle biopsy. "Blood levels of creatine kinase is removed with a needle. The sample can then be studied under a microscope. Changes in muscle tissue can be observed, incating the presence of a dystrophy. An electromygram is an electrical test to see how well muscles are functioning. If muslces do not respond normally to the test, a dystrpohy may be present. It is not possible to examine the genes present in a person's cells and identify genes that are faulty. Other tests for specific forms of MD can be conducted for certain types of MD. For example, a hearing test can be used to help diagnose children with Facioscapulohumeral MD." Many doctors who have experience with MD can diagnose MD very easily. In conclusion, however, some cases of MD can be mixed up with other diseases with very similar symptoms.

    There are no existing cures for any type of MD. Doctors have been able to discover a few drugs to slow the development of various forms of MD. For instance, a corticoseroid called predinsone us used to slow the progress of Duchenne MD. Generally though, the drugs that can be sued have a uncertain value and are limited in the treatment for MD. The key goal for treatment programs for MD is to attempt to prevent complications. Respiratory problems, scoliosis, heart defects, inablilty to move without assistance, and contractures are some major complications that come with MD. Physical therapy, surgery, occupational therapy, nutrition, cardiac care, respiratory care, and experimental treatments are different treatments for MD. Physical therapy can help stretch muscles to setback or avoid contractures. Braces can also be able to support feet, legs, ankles, and other body parts with weakened muscles. Regular exercises can help keep muscles in excellent condition. Surgery however, is different and can be used to correct severe symptoms of MD. Cutting the damaged muscle can treat contractures, The muscle then can be held in place until it grows back normally. Scoliosis can sometimes be corrected by surgery. In conclusion, there are no cures for MD but there are several types of treatments that can help or prevent this disease from progressing faster.

    The prognosis for people with MD depends on the type and the development of the disorder. Some cases may be serene and progress slowly of an ordinary lifetime. Others can be develop severe muscle weakness, functional disability, and loss of the capibility to walk. Some can die during infancy or others can live until adulthood with temperate disability. Muscles around the pevis, shoudler, face or other places can be affected but it can differ. The most severe forms usually occur in early childhood but can affect adults also. The expected lifetime for men with Duchenne MD has increased steadily for the past two decades. The young men with Duchenne now can live until their early or mid- twenties. The main cuase of death for men with Duchenne is respriatory infection. The prognosis for the other forms is unsure. It depends on the age the symptoms started to show and how severe the symptoms were. Men with Becker, Emery- Dreifuss, and Mytonic MD all may have normal life-spans. In conclusion, a serious concern for the people with those diseases is heart problems may develop.

    There isn't any way to prevent and form of MD. A way for MD to be
detected early si for the soon-to-be mothers to have their unborn child tested for the many forms of MD. In conclusion, there isn't a known way to prevent any form of MD.

    MD doesn't affect lifestyle too much like other diseases can. Depending on the type, MD patients can life a normal life as much as possible. Therapy is needed and in some cases surgery. In other cases, wheelchairs or braces are needed to help walking and balance. Since 1995, the MDA (Muscular Dystrophy Association) has provided memories for young children to make at summer camps where they are able to spend a while week at and have fun. Campers who are able to attend this camp say the week that they get to spend at the camp is "the best week of the year". Each year the MDA supports around 90 summer camps across the United States. These camps are for the MD children to have fun and develop skills to use all the time. There are camp staffs, who known about MD, medical personnel, but also campers have their own one-on-one volunteer who helps with personal care and with the aspects of having fun also. There are many activities that are designed for young people who have limited ability or who use wheelchairs. Some outside activities are: swimming, boating, baseball, football, and horseback riding. Other less physical programs are arts and crafts to talent shows. Also, special guests such as firefighters and Harley Davidson riders can add to the children's enjoyment. In conclusion, MD aren't affect too much and just try to life life and have
fun while they can.

    Like all children, MD children need to feel loved, secure, and cherished. "They need to develop a strong self esteem." Friends and family members such as parents, siblings, aunts/uncles, grandparents, etc, can help by seeing the child as his/herself and not the disease. Friends and family need to have a positive attitude, be open, honest, and patient to the child. By giving the love, encouragement, and support, family can give the child a happy life despite the challenges MD can give.

    In conclusion, MD is a very serious disease. About 1 in every 2,400 boys internationally are born with Duchenne MD alone. They die around the age of 16 years old on average. My own brother died at the age of 5 from a different type of muscular dystrophy.

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On May 29th 2008 rumcake2daend Said :
rumcake2daend I HAVE 3 FORMS OF MD. THANK YOU FOR WRITING THIS ARTICLE. i have 3 forms of MD and my dotor explained that my muscles will eventualy rot away to nothing but bone. again thank you for writing this article. - Michelle B.