Muscular Dystrophy

Muscular dystrophy (MD) is a group of diseases that cause muscles to weaken and deteriorate over time. MD is caused by a gene abnormality, or mutation, that interferes with the body’s production of proteins needed to create healthy muscle. There are over 30 different types of muscular dystrophy. Most types of MD affect voluntary muscles that control movement in the arms, legs, and torso. MD may also affect involuntary muscles, such as the heart or respiratory system.

Causes and Risk Factors

Muscular dystrophy (MD) is a genetic disorder that is often inherited from parent to child. However, it is possible for muscular dystrophy to occur due to a new genetic abnormality, or spontaneous mutation.  Certain genes in our bodies are involved in making proteins that protect our muscles from damage. Muscular dystrophy occurs when these genes are defective. Each type of muscular dystrophy is caused by a genetic mutation particular to that type of the disease. The most common variety of MD, Duchenne Muscular Dystrophy, occurs more commonly in young boys than girls.

Symptoms

The main sign of muscular dystrophy is progressive muscle weakness. Different signs and symptoms may begin at different ages, and in different muscle groups, depending on the type of MD. Symptoms might include:

  • A waddling gate
  • Late or abnormal walking
  • Frequent falling or stumbling
  • Difficulty running or jumping
  • Large calf muscles
  • Difficulty standing up from a sitting position

Symptoms for certain types of MD begin in early childhood, while symptoms for other types of MD may not appear until the teenage years or later. Generally speaking, it is a good idea to speak with your doctor if you notice signs of muscle weakness in your child. Muscular dystrophy is a progressive disease, meaning that the condition worsens over time. Depending on the type of MD, children or adults may gradually lose physical abilities. In later stages of the disease, heart and breathing difficulties may develop if the involuntary muscles are affected.

Treatment

There is currently no cure for MD, but there are treatment options to slow the rate of muscle degeneration and improve function. Certain medications may help to increase muscle strength and delay the progression of some types of MD. Physical and occupational therapy are often used to improve function and assist in daily activities. Braces or other mobility aids may be recommended to increase function and mobility. Some patients benefit from a pediatric neurosurgeon performing a procedure that releases tight muscles or tendons, or a surgery that is related to conditions of the spine.