What is Muscular Dystrophy?

Muscular dystrophy is caused by genetic mutations. The symptoms of the disease are usually inherited, but the disorder is not incurable. The doctor will use a variety of diagnostic tests to make a diagnosis. Muscle biopsy is one of these tests. If the genetic test results are negative, a small piece of muscle tissue is removed and examined under a microscope. Nerve conduction studies are another way to check for weakness.

Genetic mutations cause muscular dystrophy

The exact cause of muscular dystrophy is unknown. Researchers believe that the disease is caused by genetic mutations that interfere with the production of the muscle protein dystrophin. In addition, a family history of this disorder increases the risk of developing the disease. Duchenne muscular dystrophy affects young boys, but it can also strike girls. Other forms of muscular dystrophy affect adults. Although there is currently no cure, research is underway to find treatments and medicines that can slow the disease's progression. In severe cases, a feeding tube may be required.

Duchenne muscular dystrophy is a genetic disorder affecting approximately one in 5,000 males. It is caused by mutations in the DMD gene, which is found on the X chromosome. The disease manifests in affected males when one copy of the gene has been mutated. Becker muscular dystrophy, on the other hand, has a milder form and onset later in life.

Treatment

There is no cure for muscular dystrophy, but therapies can manage symptoms and maintain day-to-day function. Some forms of the disease cause weakness in the muscles of the face, throat, and limbs. These symptoms can be addressed with speech therapy, and doctors may prescribe special equipment to help patients breathe and swallow. Other treatments may include physical therapy or surgery. The doctor may also recommend nutritional therapy or clinical trials. Depending on the type of muscular dystrophy, treatments may also involve dietary changes, and therapy for breathing, muscle function, and vision.

The best treatment options for muscular dystrophy involve an interdisciplinary team of professionals. A team of medical professionals will provide treatment to correct muscle weakness and restore function. The interdisciplinary team will work with the patient and family to maximize functional outcomes and help them adapt to life with the disorder. Parents may also find helpful information through the Muscular Dystrophy Association. They can contact local support groups and seek information to make the most of their child's daily life.

Complications

Muscular dystrophy causes functional problems that often include weakness of the arms and legs. Weakening of the chest muscles leads to breathing difficulties and the need for an assistive breathing device. Muscular dystrophy can also lead to heart problems, including decreased heart rate and contraction capacity. Muscular dystrophy can also affect swallowing, causing difficulty breathing and peristalsis. Liver dysfunction may result in alterations in transaminase levels and liver enzymes.

Muscular dystrophy symptoms vary between patients. Some patients develop contractures, which are weakened tissues around the joints. These can lead to reduced mobility and a higher risk of fractures. Patients may also experience scoliosis, a curvature of the spine caused by weakness of the back muscles. Some patients may require crutches to walk. Some may also develop bone fractures. Complications of muscular dystrophy include heart problems, bone fractures, and a weakened immune system.

Molecular genetic tests

Molecular genetic tests for muscular dystrophy are available for individuals who have elevated serum CK levels and a clinical diagnosis of dystrophinopathy. The tests will determine if a mutation in the DMD gene is responsible for the muscular dystrophy. A mutation in the dystrophin gene leads to muscular dystrophy, and is first targeted for large deletion/duplications. Approximately 70% to 80% of cases have a large deletion/duplication.

The DMD gene is a protein that controls the production of dystrophin. It appears to play an essential role in the integrity of the cell membrane surrounding muscle fibers. When the DMD gene is mutated, dystrophin is no longer produced. Muscular fibers begin to degenerate, and some muscle fibers can regenerate, but not enough to prevent the symptoms of DMD. Becker muscular dystrophy and Duchenne muscular dystrophy are two other less severe forms of the disease. The symptoms of DMD include progressive weakness in various voluntary muscles and the loss of some muscle tissue. In the advanced stages, heart and gut muscles may be affected.