Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy

They are some diseases that are inherited from your parents. These diseases can be very serious and getting proper and early treatment is the key to an individual getting well.

Muscular Dystrophy is a group of genetic diseases that gradually weakens the bone muscles. This is caused by incorrect or missing genetic information that prevents the body from making the necessary proteins it needs to build and maintain healthy muscles. Muscular dystrophy is divided into seven different categories: Becker’s muscular dystrophy, Duchenne muscular dystrophy, facioscapulohumeral muscular dystrophy, limb-girdle muscular dystrophy, Emery-Dreifuss muscular dystrophy, myotonic dystrophy and myotonia congenita.

Who can get it?

Some forms of muscular dystrophy are present at birth, others start during adolescence. Duchenne muscular dystrophy primarily affects boys.

What causes it?

Muscular dystrophy is an inherited disorder that happens when an individual’s DNA is missing the piece of genetic information that prevents the body from making the protein responsible for muscles.

What are the symptoms?

The symptoms associated with muscular dystrophy vary with the type of illness that you have. Duchenne muscular dystrophy can be fatal, while other types only have muscle weakness as a symptom, but it causes little disability. The muscles affected can vary, but it usually occurs around the pelvis, shoulder and face. The muscle weakness will lead to frequent falls, problems walking, delayed development of motor skills, eyelid drooping, mental retardation, joint contractures and scoliosis.

How can it be diagnosed?

A doctor will do a complete examination and take family medical history. Specific muscle groups are affected by the different types of muscular dystrophy. So, an examination of all of the muscles needs to be done. A muscle biopsy may be the initial test to confirm the diagnosis. Blood tests may also be done to check the individual’s DNA for the gene. The following other tests may also be conducted: urine, creatinine, and aldolase.

What treatments are available?

Muscular dystrophy can not be cured. The treatments are aimed at controlling the symptoms associated with the disease to help improve the quality of life of the individual. The individual is encouraged to be active to the point that they can tolerate it. Inactivity can worsen the disease, since the muscles will begin to lose their function. Physical therapy is many times used to strengthen the muscles and increase their function. Many times braces and wheelchairs are used to help with mobility. In some instances, surgery on the spine and lower extremities are done to improve the function of the muscles and slow down the deterioration. In some cases, doctors will prescribe the steroid prednisone to help slow the rate of the muscle deterioration. Prednisone is a powerful steroid so some doctors will not give to children younger than six. Prednisone does have side effects; it can cause weight gain, which can put an even greater strain on a child’s weak muscles. It can also cause a loss of bone density and this could lead to fractures. If a child is given this medication, they will have to be monitored carefully by a doctor. Many children with muscular dystrophy also have a weakened heart and respiratory muscles. As a result they can sometimes develop respiratory infections that can become serious quickly. It is important to make sure the children have all of their regular vaccinations to prevent infections. If treatment is not received an individual can suffer from decrease in mobility, decrease mental function and respiratory failure.

Muscular dystrophy is a very serious illness. The prognosis for individuals with muscular dystrophy depends on the type of disease they have and the progression of it. In some cases, the symptoms are mild and they progress very slowly over a normal lifetime, while other individuals experience quicker progression of muscle weakness, functional disability and the loss of the ability to walk. In the case of Duchenne muscular dystrophy death can occur in the early twenty’s. Researchers are trying to learn all they can about this illness, in hopes of one day finding a cure. It is also important for parents who have children affected with muscular dystrophy to join a support group. This illness can place a lot of stress on the parents, and it is important for them to have a place to share their common experiences, issues, problems and hopes for their children.

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