All you need to know about muscular dystrophy

All you need to know about muscular dystrophy

Muscular dystrophy refers to a group of diseases that cause progressive degeneration of muscle mass and loss of strength. These diseases may affect 1 in every 5,000 persons in the country itself.

As the condition progresses, it becomes harder to treat. At times, it can even affect breathing and working of the heart, which can be quite life-threatening. There are no ways to avert or reverse muscular dystrophy, but a lot of methodologies, like gene therapies are being trialed to combat the disease. Also, different kinds of remedies and drugs can improve the quality of life and delay the onset of symptoms.

Muscular dystrophy crops up in both sexes and all age groups. The most common form is Duchenne muscular dystrophy, which usually occurs in young boys but could strike in adulthood as well. People who have a family member afflicted with the unfortunate disorder are at greater risk of developing the disease or passing it on to their progeny.

Each type of muscular dystrophy is caused by specific mutations on the X chromosome. These mutations prevent the body from producing dystrophin, a type of protein that is just 0.002 percent of all the proteins in striated muscle but is essential for repairing and building. If dystrophin is absent or deformed, it can cause disruptions to occur in the sarcolemma (a thin transparent outer membrane over skeletal muscles). This, in turn, weakens the muscles and sometimes damages the muscle cells. The effects and manifestation of the disease are directly related to the amount of dystrophin that is being produced.

The most obvious symptom of muscular dystrophy is progressive muscle weakness. Becker muscular dystrophy is similar to Duchenne but tends to begin in the 20s or later and is milder.

Symptoms and signs include:

  • A wobbly gait
  • Inability to run, jump or walk on toes
  • Stiff muscles with pain
  • Problems in standing up or sitting
  • Falling frequently
  • Learning disabilities

As time passes, the progressive disease can bring out the following complications:

  • Shortening of tendons and muscles, making movement even more limited.
  • Inability to walk
  • Spine curvature may happen if muscles become weak and are unable to support its structure.
  • Problems during breathing can become so serious that assisted breathing becomes the only option.
  • Heart muscles may weaken, causing cardiac problems.
  • Difficulty swallowing food. One may require a feeding tube.

Muscular dystrophy can be diagnosed by various means. An enzyme assay for creatine kinase, genetic testing, heart monitoring, lung monitoring, electromyography or a biopsy may be used.

Like many diseases in the world, there is no permanent cure for muscular dystrophy. However, the progression of the disease can be slowed to keep the patient mobile for as long as possible. Drugs, physical therapy, and general exercise, too can slow down the wasting away of muscles. As the disease progresses breathing assistance may be required along with mobility aids like canes or wheelchairs. Seek an expert opinion if you notice any signs of muscle weakness.