Muscular Dystrophy

What is muscular dystrophy?

Muscular dystrophy is a general name for a group of rare diseases that cause muscle weakness. It is caused by mutations in certain genes. There are more than 30 different types of muscular dystrophy and each affects certain muscles and varies in severity. Some types of muscular dystrophy affect children while others don’t appear until adulthood.

The most common type, called Duchenne muscular dystrophy, usually begins between ages 2 to 5 and symptoms progress quickly. About 50 percent of all people with muscular dystrophy have this type. Duchenne muscular dystrophy most often affects boys, though girls can inherit the gene and pass it to their children.

Some other types of muscular dystrophy that can affect children include:

  • Becker: This type is related to Duchenne muscular dystrophy, but is less severe.
  • Emery-Dreifuss: Most common in boys, this type of muscular dystrophy causes weakness and progressive wasting of the lower leg and upper arm muscles.
  • Facioscapulohumeral: This type affects muscles in the face, upper arms and shoulders.
  • Limb-girdle: This is a group of more than 20 inherited conditions that cause progressive muscle loss and weakness.
  • Myotonic dystrophy: This is the most common muscular dystrophy in adults, but symptoms can sometimes begin in infancy or childhood.
  • Distal: Also called distal myopathy, is a less severe form of muscular dystrophy that usually progresses slowly.

All types of muscular dystrophy get worse over time, and can eventually cause the inability to walk. Some types of muscular dystrophy can also cause problems with breathing.

There is no cure for muscular dystrophy, but treatments can prevent complications and help with symptoms.

What are the symptoms of muscular dystrophy?

The most common symptom of all types of muscular dystrophy is muscle weakness that gets worse over time.

Each type of muscular dystrophy has its own specific symptoms:


  • frequent falls
  • having trouble getting up from a lying or sitting position
  • a waddling walk
  • difficulty running and jumping
  • enlarged calf muscles


  • walking on tiptoes
  • frequent falls
  • muscle cramping
  • later onset of symptoms than Duchenne


  • trouble with hand movements and extending the fingers
  • difficulty climbing stairs and walking
  • inability to stand on the heels or hop


  • muscle weakness that begins in the upper arms and lower legs
  • decreased movement in the spine, knees, elbows, ankles, and back of neck
  • elbows locked in a flexed position
  • rigid spine


  • weakening of the muscles around the eyes and mouth
  • slanted shoulders or shoulder blades that looked "winged"
  • trouble speaking, swallowing, or chewing
  • hearing problems
  • a curve in the spine


  • weakness around the hips that spreads to the legs, shoulders, and neck
  • frequent falls
  • a waddle when walking
  • rigid spine

Myotonic dystrophy

  • an inability to relax muscles after contracting them
  • having a long, thin face and neck
  • trouble swallowing
  • cataracts, drooping eyelids, and other vision problems
  • drowsiness
  • in infants, trouble swallowing or breathing, lack of reflexes, muscle weakness in the face, and delayed motor skills

What are the causes of muscular dystrophy?

Muscular dystrophy is usually an inherited condition caused by a mutation in one of the genes that affect proteins in the muscles. This mutation causes the protein to be missing or altered so it doesn’t work correctly. Each type of muscular dystrophy is caused by a different mutation.

In some cases, the mutation is not inherited from a parent, but occurs spontaneously. In this case, the mutation can then be passed on future generations.

How we care for muscular dystrophy

At the Boston Children’s Hospital Neuromuscular Center, our team of specialists from neurology, orthopedic surgery, physical therapy and genetics are experienced in caring for children with muscular dystrophy. We are one of a few sites in the United States funded by the National Institutes of Health (NIH) and various sponsors to conduct clinical studies on muscular dystrophy.