Managing Muscular Dystrophy

Lately, you are incredibly clumsy and tripping over yourself as you walk. You have been falling a lot. You have muscle pain and stiffness. You could have muscular dystrophy.

Muscular dystrophy is a rare group of muscle diseases that cause progressive muscle weakening. A majority of those with this condition use wheelchairs. There are several kinds of muscular dystrophies with Duchenne muscular dystrophy being the most common. Symptoms of Duchenne are frequent falls, trouble running and jumping, difficulty rising from a lying or sitting position, waddling gait, walking on toes, large calf muscles, muscle pain and stiffness, and delayed growth.

Some other forms of muscular dystrophy are:

·       Becker muscular dystrophy-is similar to Duchenne muscular dystrophy but progresses slowly and is milder. Symptoms often begin in teens but might not appear until a person’s 20s.

·       Myotonic-marked by an inability to relax muscles after contractions. Facial and neck muscles are likely to be affected. People with this form have long, thin faces, droopy eyelids or swanlike necks.

·       Facioscapulohumeral-muscle weakness in the face, hip and shoulders. The shoulder blades may stick out like wings when arms are raised. Onset usually occurs in teen years but it can begin in childhood or as late as age 50.

·       Congenital-this type affects boys and girls and is apparent at birth or before age 2. Some forms progress slowly and cause only mild disability, while others progress rapidly and cause severe impairment.

·       Limb-girdle-hip and shoulder muscles are usually affected first. People with this type of dystrophy may have trouble raising the front part of the foot, so may be prone to tripping. Onset usually begins in childhood or the teenage years.

You should see a physician if you have had issues with tripping and falling or just clumsiness in general. When talking to your doctor be as upfront as possible regarding your symptoms.

Certain genes are involved in making proteins that protect muscle fibers. Muscular dystrophy occurs when one of those genes is defective. Each form of muscular dystrophy is caused by a genetic mutation specific to that type of the disease. Most of these mutations are inherited.

Some complications of muscle weakness include trouble walking (some people eventually need a wheelchair), trouble using arms, shortening of muscles or tendons around the joints (contractures), curved spine (scoliosis), heart problems, and swallowing problems.

To diagnose, your doctor may start with medical history and a physical examination. He might recommend other tests such as an enzyme test (damaged muscles release high levels of enzyme like creatine kinase); genetic testing; muscle biopsy (a muscle sample can be analyzed for this condition); heart-monitoring tests (electrocardiography and echocardiogram); lung-monitoring tests; and an electromyography.

There is no cure for muscular dystrophy, but treatment can mean the difference in being mobile and not having access to heart and lung strength. People with this condition will need to be monitored throughout their life.

Treatment options include medications, physical and occupational therapy, surgical and other procedures. Some medications your doctor may recommend are corticosteroids, such as prednisone and deflazacort (Emflaza) which will help with muscle strength and slows the progression of certain types of muscular dystrophy. Please note that side effects include weight gain and weakened bones.

There are newer drugs like eteplirsen (Exondys 51) which is approved by the Food and Drug Administration to treat Duchenne muscular dystrophy. The FDA also approved another drug golodirsen (Vyondys 53) to treat Duchenne dystrophy with a certain kind of genetic mutation. Heart meds like angiotensin-converting enzyme (ACE) inhibitors or beta blockers are needed if the muscular dystrophy damages the heart.

Several types of therapy and assistive devices aid muscular dystrophy patients in their daily lives such as range-of-motion and stretching exercises, low impact aerobic exercise (e.g. walking and swimming), braces, mobility aids, breathing assistance.

Surgery might be needed to correct contractures and a curved spine that may make breathing more difficult. A pacemaker or other cardiac device may be needed to improve heart function.

And stay up-to-date with vaccinations for pneumonia and influenza since respiratory infections may make things harder for muscular dystrophy patients.

A gene for muscular dystrophy has been discovered, as well as the lack of a protein that causes the muscle deterioration. Therefore finding a cure is no longer a pipe dream but a distant reality. There’s now hope that this condition will not continue to devastate those with this illness.