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Muscular Dystrophy - A Risk to Everyone
Written By : M. Lieberman 
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Muscular dystrophy (MD) is a genetic disorder that causes weakness in the muscles that allow your body to move. Patients that have MD have do not have the correct information in their genes. This prevents the body from making the proper proteins needed for healthy muscles. Because Muscular Dystrophy is genetic, you have the problem at birth. You cannot catch it from another person, so it is by no means contagious.

The major problem with MD is that over time, it weakens the muscles. Because of this children, teens and adults who have been diagnosed with the disease will gradually lose their ability to do most of the things that we usually take for granted, such as: walking around, standing or sitting up. The muscle problems can affect a baby or the symptoms might begin later in life and it is not uncommon for adults to develop the disease.

Muscular Dystrophy is not just one disease. The term refers to a group of genetic or hereditary disorders that destroy the muscles and that vary from the age of onset, the muscles that initially attacked and the rate the disease progresses. All of the types of Muscular dystrophy have one common problem and that is the progressive weakness and wasting of the body's muscles.

How is Muscular Dystrophy Diagnosed by a Doctor?

It is a known fact that Muscular Dystrophy is a genetic or inheritable disease. It is still a mystery why two individuals who are genetically the same often get Muscular Dystrophy of different severities. The diagnosis of MD is based on a combination of clinical presentation, blood tests and the results of muscle biopsy.

A physical examination or medical history is critical and your doctor will ask you all types of questions about any concerns or symptoms you have, your past health history, your family's health history, any medications that you are taking, any known allergies you have and other issues.

Certain tests can help the doctor determine exactly which type of Muscular Dystrophy you have and eliminate any other diseases that can affect the muscles or nerves. Some tests are able to measure how the nerves and muscles are actually functioning. Other tests will be to check the blood for specific levels of certain enzymes and the proteins that are involved in converting food to energy. The presence of abnormally high blood levels of specific enzymes from the muscle cells is typically present in many people with the disease.

Sometimes it is necessary to obtain a muscle biopsy. If this is necessary, the doctor will remove a small piece of muscle tissue and then the tissue sample is examined under a microscope. If you have the disease, the sample of muscle tissue will display some rather large fibers and they will also show a breaking down of other fibers in the sample. Genetic testing can also be performed.

What are the Treatment Options for Muscular Dystrophy?

At the present time, there is no cure for Muscular Dystrophy, but research by doctors and scientists continues to find one. Some of the on going research involves trying to correct the defective genes so they will make the right proteins. Others are trying to produce chemicals that will function like the proteins in the body. They hope that either approach will help the muscles to perform and work properly. The doctors and scientists are very dedicated to find the absolute best ways to treat the various symptoms, so that all kids, all teens and all adults with this horrible disease can live more comfortably and happily as possible.

There is also no specific treatment to cure or halt the disease. Patients may find some benefit from physical therapy and light exercise. It may be necessary to use orthopedic appliances, such as crutches, braces and wheelchairs. Sometimes the doctor will recommend corrective orthopedic surgery to help preserve muscle function and prevent stiffening of the muscles near the joints as much as possible to improve quality of life.

Steroids are used to slow the disease progression, but long term or high doses of steroids can cause serious problems and they do not affect the final outcome.

The identification of the actual genes that are responsible for the various types of the disease has led to very extensive research on both gene and molecular therapy, but at the present time, all such treatments are still experimental. The use of Genetic counseling is highly recommended for families of affected individuals to determine if there are other family members who carry the defective gene so that the can participate in prenatal testing.

What are the Specific Symptoms of Muscular Dystrophy?

The Principal and Obvious Symptoms include:

* The wasting of muscle, which occurs over time and is progressive, muscle weakness and the loss of function or ability to control the muscles

* In the Duchenne form, there is usually a delay in the development, in children, of the basic muscle skills and coordination.

The most Common signs are those of poor balance with the child experiencing frequent falls, difficulty with walking, waddling with a duck like gait, pain in the calves of the legs and a limited range of movement

* Inability to exercise or even play can cause Obesity

* Stiffening of the muscles near the joints (Joint contractures)

* Vision problems due to Cataracts, baldness on the front of the head, eyelid drooping, atrophy of the gonads and even mental impairment

The types of Muscular Dystrophy are specifically classified according to the location or group of the muscles that are involved, the age when symptoms appear, the rate that the symptoms actually progress and the manner in which the defective gene is passed on. The symptoms and the prognosis can vary, depending on the type. The disease may affect some of the muscles or even all muscles, it may develop during sometime during childhood or even adulthood, it can progress either very gradually or rapidly and may or may not be severely disabling.

Muscular Dystrophy weakens different muscle groups in various ways:

* Duchenne muscular dystrophy (DMD) is the most common type of the disease and is caused by a defect with the gene that makes a protein called dystrophin. This protein helps to regulate the muscle cells to keep their shape and strength. Without the protein, the muscles break down and a person gradually becomes weaker.

DMD affects boys and usually begins somewhere between ages 2-6. By age 10-12, kids often need to use a wheelchair. The heart may also be affected, so they need to be monitored closely by a cardio-pulmonary specialist. They can also develop curvature of the spine and tightness in their joints. Unfortunately, over time, the muscles that control their breathing become weaker and they may need a ventilator to breathe. People with this type of MD usually do not survive beyond their late teens or early adulthood.

* Becker muscular dystrophy (BMD), also affects boys. It is very similar to DMD, but the symptoms may start later in life and can be less severe.

BMD also involves the breakdown of muscles and weakness. Sometimes it does not begin until age 10 or older. The patient can also experience problems with breathing, abnormal heart rhythms, bone deterioration and muscle, and joint problems. Many people with this type of the disease are able to live long, active lives without having to use a wheelchair. The severity of any breathing and heart problems will determine how long the patient will survive.

* Emery-Dreifuss muscular dystrophy (EDMD) usually begins causing symptoms from late childhood to early teens and even as late as age 25.

EDMD affects mostly boys. It affects the muscles in the shoulders, the upper arms and the shins and it often causes the joints to become. It can also affect the heart.

* Limb-girdle muscular dystrophy (LGMD) affects both boys and girls equally. It weakens the muscles in the shoulder areas and upper arms and even around the hips and thighs.

LGMD can begin during early childhood or even as late as mid-adulthood. It usually progresses slowly, but over time, it might be necessary to use a wheelchair to get around. There are several different types of this form, each one having its own unique features.

* Facioscapulohumeral muscular dystrophy (FSHD) can affect both guys and girls. It usually begins during the teens to early adulthood.

FSHD affects the muscles in the face and shoulder areas and can sometimes cause weakness in the lower legs. Patients may have trouble lifting their arms, closing their eyes tightly or even whistling. The affects of this condition vary from patient to patient and it can even be very mild in some people.

* Myotonic dystrophy (MMD) is a form of muscular dystrophy that causes a problem with the muscles being able to relax.

In teens especially, it can cause weakness of the muscles and muscle shrinking or wasting over time, heart problems and even cataracts.

* Congenital muscular dystrophy (CMD) is the term used for all types of the disease, in babies and young children that show signs.

Like the other forms, it involves weakness of the muscles and poor muscle tone. It occurs in both girls and boys and can have symptoms that are different. It can vary in how severely someone is affected and even how fast or slowly it worsens. In rare cases, this form can cause both learning disabilities and mental retardation.

The life expectancy of an individual for many of these types of muscular dystrophy will depend on which muscle groups are affected, how severely that have become weakened and how much the heart and lungs have been affected. Because our bodies rely on specific muscles to breathe, some patients with the disease need respiratory assistance, such as a ventilator, to help them with their breathing. It's also critical that a cardiologist monitor patients with heart problems that were caused by muscular dystrophy.

It is sad, but often true, that people with any type of illness that gradually worsens over time can feel cut off from friends or even family members. Try planning activities that include them. Your friend or family member will always be the same person to you, but only more limited in movement. 

 
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