What Is Muscular Dystrophy?
Muscular dystrophy (MD) is a group of inherited diseases in which the muscles that control movement (called voluntary muscles) progressively weaken. In some forms of this disease, the heart and other organs are also affected.
There are nine major forms of muscular dystrophy:
- Myotonic
- Duchenne
- Becker
- Limb-girdle
- Facioscapulohumeral
- Congenital
- Oculopharyngeal
- Distal
- Emery-Dreifuss
Muscular dystrophy can appear in infancy up to middle age or later, and its form and severity are determined in part by the age at which it occurs. Some types of muscular dystrophy typicallyaffect only males; some people with MD enjoy a normal life span with mild symptoms that progress very slowly; others experience swift and severe muscle weakness and wasting, dying in their late teens to early 20s.
The various types of MD affect more than 50,000 Americans. Through advances in medical care, children with muscular dystrophy are living longer than ever before.
Muscular Dystrophy Treatment
There is no cure for muscular dystrophy, but treatments can help manage symptoms and improve quality of life.
Medications
Prescription drugs are available to control muscular dystrophy symptoms or slow their progression. Medications for muscular dystrophy include:
- Steroids. Corticosteroids, such as prednisone and deflazacort (Emflaza), are the standard of care for muscular dystrophy. They help improve muscle strength and breathing and decrease weakness. Side effects include high blood pressure and weight gain. People who use steroids for a long time are at risk for brittle bones.
- Medicines targeting gene mutations. Eteplirsen (Exondys 51) and golodirsen (Vyondys 53) increase the level of the gene dystrophin. They’re approved to specifically treat Duchenne muscular dystrophy.
- Anticonvulsants. Often used to treat epilepsy, these antiseizure drugs may also help reduce muscle spasms.
- Immunosuppressants. These powerful medicines are often used to treat lupus and other autoimmune diseases. When given to people with muscular dystrophy, they may help prevent some muscle cell damage.
- Antibiotics. The doctor may prescribe an antibiotic to treat a lung infection, which is common in people with muscular dystrophy.
Physical therapy helps keep joints and muscles flexible. It’s an important part of a muscular dystrophy treatment plan.
The goal of physical therapy is to improve strength in the large muscle groups and prevent scoliosis and contractures.
Physical therapy for muscular dystrophy may involve:
- Range of motion exercises
- Stretching
- Low-impact workouts, such as swimming or water exercise (aquatic therapy)
To start, your doctor will examine your child and ask questions about medical and family health history. Muscular dystrophy is diagnosed using several different tests. These may include:
Muscle biopsy. A small piece of muscle tissue is removed and examined to confirm the diagnosis or rule out another muscle disease.
Genetic (DNA) testing. Genes passed down through families can cause some forms of muscular dystrophy. A blood test can determine if you or your child has the gene.
Neurological tests. Various tests are done to check nervous system function, reflexes, and coordination. One example is a nerve conduction study, also called a nerve function test, or electromyography (EMG).
Enzyme tests. These are blood tests that check for proteins, or enzymes, linked to muscle weakness. People with muscular dystrophy have high levels of the enzyme creatine kinase. It’s made when muscles are damaged. They also have higher levels of serum aldolase, which is made when your body breaks down sugar into energy.
Heart monitoring. An electrocardiogram may be done to check for an abnormal heartbeat. Some types of muscular dystrophy cause irregular heartbeats.
MRI or ultrasound. These imaging tests give the doctor a look at muscle quality and can reveal if fat is replacing muscle tissue.