Muscular Dystrophy

What is Muscular Dystrophy?

Muscular Dystrophy is a group of more than thirty rare disorders that lead to the progressive weakness of muscles and loss of muscle mass. It is caused by a genetic mutation that hinders the production of the proteins that are needed for the development of healthy muscles. It most often becomes apparent during childhood, usually in boys, although some cases do not appear until adulthood or even middle age.

Different types of dystrophy will affect different sets of muscles as well as when symptoms first appear, how fast it progresses, and the pattern of inheritance. Likewise, the prognosis for any given case varies based on these same factors. Several research groups are conducting studies on the disorder so that it can be better understood and treatments can be improved.

What are the Symptoms of Muscular Dystrophy?

Muscular dystrophy is usually first noticed when the patient begins to experience weak muscles.

Symptoms include

  • Muscle weakness
  • Muscle pain
  • Flabby muscles
  • Difficulty walking
  • Muscle shortening
  • Learning disability
  • Delayed development
  • Walking on tip toe
  • Cardiomyopathy
  • Difficulty swallowing
  • Constipation
  • Fatigue
  • Shallow breathing

Further complications that can arise as a result of the condition include scoliosis, heart problems, and breathing difficulties.

Muscular Dystrophy Causes

The disease widely known as muscular dystrophy is known to be caused by mutations of the X chromosome. In fact, each and every version of muscular dystrophy is caused by a different group of mutations, but what they share in common is that they each stop the body from producing dystrophin. Dystrophin is an essential protein utilized in the repair and construction of muscles. For example, Duchenne muscular dystrophy is the result of specific mutations in a gene responsible for encoding your cytoskeletal protein dystrophin.

Dystrophin composes only 0.002% of all the proteins found in striated muscle, but this protein is an important molecule for governing the general functioning of the body’s muscles. The composition of dystrophin is very complex even among proteins which are why they usually allow the body’s striated muscles to function so well. This protein works by anchoring several components inside of muscular cells linking them to the sarcolemma or outer membrane.

However, should the dystrophin be absent or malformed, the anchoring process can fail causing significant disruptions in the outer membrane. The result is a weakness in the muscles, as well as actively damaging the muscle cells and consequently the muscles.

How is Muscular Dystrophy Treated?

While there is no cure for muscular dystrophy, there are various treatments to help patients manage their symptoms more effectively.

Treatments include

Physical therapy and exercise are two of the more common methods, as these help strengthen muscles and promote movement. Corticosteroids and also improve muscle strength, and heart medications may be prescribed if muscular dystrophy has caused damage to the heart. When stabilization is needed, braces may be used. In cases affecting the legs, patients will likely eventually require walking aids such as a walker, a cane, or a wheelchair. Patients experiencing scoliosis might require surgery to improve posture and correct spinal curvature.

Muscular Dystrophy Prevention

In some cases, forms of muscular dystrophy can be prevented. One well-known example is Post-Polio Syndrome, a condition causing muscle weakness which develops in adult patients who were afflicted with polio as children. Post-Polio Syndrome is preventable by vaccinating children against polio.

Because muscular dystrophy has a genetic link, having information on a person’s family history can be a useful prevention tool. With this genetic data and counseling, people can determine whether or not their children have a chance of developing the disorder. Additionally, patients can learn about what specific toxins or medications might contribute to muscle and nerve damage.

Last Reviewed:
September 21, 2016
Last Updated:
March 09, 2018