Muscular dystrophy is a group of genetic diseases that cause progressive weakness and eventual complete loss of muscle mass. There are many different types of muscular dystrophy, but it is considered a very rare disease, with fewer than 200,000 documented cases in the United States each year.
Muscular Dystrophy Symptoms
The exact symptoms of muscular dystrophy will vary depending on the type you are suffering from. The most common symptoms of muscular dystrophy include:
- Frequent falls
- Trouble running and jumping
- Muscle pain and stiffness
- Learning disabilities
- Walking on the toes
- Difficulty getting up from a sitting or lying position
- Waddling gait
- Large calf muscles
Symptoms may begin as early as two or three years old, or as late as the mid-20s, depending on which type of muscular dystrophy is causing the symptoms to occur. Talk to your doctor if you notice signs of muscle weakness in yourself or your child.
Muscular Dystrophy Causes
The proteins that protect your muscle fibers from damage require certain genes to be effective. However, when one of the genes is defective, this causes muscular dystrophy to develop. Each type of muscular dystrophy is caused by a specific genetic mutation. Most mutations are inherited, but in rare cases, the mutation will occur spontaneously inside the mother’s egg or in the developing embryo for unknown reasons. When this occurs, it is possible to pass on the genetic mutation to the next generation as well.
Muscular Dystrophy Diagnosis
If you or your child begins experiencing the symptoms of muscular dystrophy, your doctor will likely begin by doing a physical examination and asking about your personal and family medical history. Based on this, if your doctor believes you may have muscular dystrophy, he or she will likely recommend further testing to confirm the diagnosis. These tests may include:
- Enzyme tests
- Electromyography
- Genetic testing
- Muscle biopsy
- Heart-monitoring tests
- Lung-monitoring tests
Muscular Dystrophy Treatments
Unfortunately, there is no cure for muscular dystrophy. However, there are many treatment options that can help to prevent or reduce the symptoms of the disease and allow you to remain mobile for as long as possible. Treatment options for muscular dystrophy include:
- Medications: Commonly prescribed medications for treating the symptoms of muscular dystrophy include corticosteroids such as prednisone to help improve muscle strength, as well as heart medications such as ACE inhibitors or beta blockers if there is damage to the heart muscle.
- Therapy: There are several different types of therapy that work to improve the quality of life for patients living with muscular dystrophy. These include range of motion exercises, stretching exercises, braces, mobility aids, breathing assistance, and low-impact aerobic exercise. All of these methods work to increase flexibility and slow the progression of the disease.
- Surgery: If there is a spinal curvature, this could eventually make breathing more difficult for someone with muscular dystrophy. In these cases, surgery may be necessary in order to correct the curvature and prevent breathing problems.
