What is Muscular Dystrophy

Muscular dystrophy is any condition in a group of diseases that are characterized by muscle weakness and muscle loss. This can occur in the muscles that are used for body movements (voluntary muscles) or in the muscles that are used for breathing and heartbeat (involuntary muscles).

Most types of muscular dystrophy begin to cause symptoms during childhood. Some types do not start causing symptoms until later in life.

The most common types of muscular dystrophy include:

• Duchenne. This is the most common type. Symptoms usually begin by age 5 and start in the upper arms and legs.
• Becker. This type is usually milder than Duchenne. Symptoms usually begin by age 12 and start in the arms and legs.
• Myotonic. This is the most common type that affects adults. Symptoms usually begin by age 30. This type makes muscles tight and unable to relax. It usually starts in the arms, face, hands, or legs.
• Limb-girdle. Weakness may begin in childhood or adult years. This type starts in the hips and shoulders.
• Facioscapulohumeral. This type affects the face and shoulders. Symptoms may start in childhood or adult years.
• Congenital. This type is present at birth. It causes muscle weakness in the upper body and legs.

What are the causes?

This condition is caused by changes (mutations) in the genes that are needed to make proteins for healthy muscles. Different mutations cause different types of muscular dystrophy. These gene mutations may:

• Be present at birth (congenital). The mutation is passed from parent to child (inherited).
• Develop on their own (spontaneous). This occurs when the baby is growing in the womb and the mother is not a carrier of the mutation.

What increases the risk?

This condition is more likely to develop in:

• People who have a family history of the condition.
• Males. The most common type of muscular dystrophy occurs more often in boys than in girls.

What are the signs or symptoms?

Symptoms of this condition vary, depending on the type of muscular dystrophy that you have. Early signs and symptoms of muscular dystrophy in childhood may include:

• Frequent falling or clumsiness.
• Having a hard time getting up into a standing position.
• Trouble running, walking, jumping, or climbing stairs.
• A waddling walk.
• Walking on toes.
• Painful or stiff muscles.

Symptoms of more advanced muscular dystrophy may include:

• Becoming unable to walk.
• Trouble pushing things like a wagon or tricycle.
• Curving of the spine.
• Trouble swallowing.
• Trouble breathing.
• Heart failure.

How is this diagnosed?

This condition may be diagnosed with:

• A physical exam.
• Your medical history.
• Blood tests.
• Tests to measure the electrical activity of muscles (electromyogram).
• A procedure to remove a sample of muscle fibers to be examined under a microscope (muscle biopsy).
• Heart and lung function tests.

How is this treated?

There is no cure for this condition. However, treatment may slow worsening of the disease and help you to stay active. Treatment may include:

• Occupational, physical, and speech therapy.
• Assistive devices, such as a brace, cane, walker, or wheelchair.
• Medicines to:
  • Reduce swelling (steroids).
  • Improve heart function and bone health.
• Surgery to correct or prevent complications, such as eye or heart problems.
• Counseling to support your mental health.
• A feeding tube to assist with nutrition.
• A breathing machine (ventilator).

Follow these instructions at home:

Learn as much as you can about muscular dystrophy, and work closely with your treatment team. Home care needs may change over time.

Eating and drinking

• Eat a healthy, balanced diet.
• Do not try to treat this condition with special diets or supplements. These do not help to relieve the symptoms of this condition.

Activity

• Try to stay physically active. Ask your health care provider what level of physical activity is safe for you.
• Do physical therapy exercises as directed by a physical therapist.

Safety

• Take steps to prevent falls. If possible:
  • Remodel a bathroom to make it accessible for a wheelchair.
  • Add a chair or bench to the shower.
  • Install grab bars for your tub, shower, and toilet.
  • Lower beds to make them easier to get in and out.
  • Install assistive devices throughout your home to help you when going from a seated to a standing position.
• If necessary, make changes in your home to make access easier:
  • Widen doors and install a wheelchair ramp.
  • Change doorknobs to lever handles to make doors easier to open.
  • Install pull-out shelving in cabinets.
  • Place items such as plates and cups in low drawers.
  • Consider “smart home” controls that allow you to turn off lights if you are seated or have left a room.

General instructions

• Take over-the-counter and prescription medicines only as told by the health care provider.
• Stay up to date on all immunizations, including the yearly (annual) flu vaccine.
• Try to maintain a healthy weight. You may need to follow a low-calorie eating plan to maintain your weight if you cannot be active.
• Do not use any products that contain nicotine or tobacco, such as cigarettes and e-cigarettes. If you need help quitting, ask a health care provider.
• Keep all follow-up visits as directed by your health care provider. This is important.

Seek Additional Information

• Ask your health care provider to suggest resources in your area for emotional or caregiving support.
• Muscular Dystrophy Association: www.mda.org  

Contact a health care provider if:

• Your symptoms change.
• You have trouble taking care of yourself at home.

Get help right away if:

• You have problems with breathing or swallowing.
• It is no longer safe or possible for you to care for yourself at home.

Summary

• Muscular dystrophy is any condition in a group of diseases that are characterized by muscle weakness and muscle loss.
• Symptoms of this condition vary, depending on the type of muscular dystrophy.
• There is no cure for muscular dystrophy. However, treatment may slow the worsening of the disease.
• You may need to make changes to your home to make it safer and easier for you to care for yourself.