MUSCULAR DYSTROPHY

 Basic information

description

Muscular dystrophy is a group of inherited disorders that cause muscle weakness and wasting (decrease in size). There are nine major types of muscular dystrophy (and some subtypes within those types). Duchenne is one of the most common types. The disorders are usually diagnosed in children (most often boys), and less often in teens or adults.

FREQUENT SIGNS & SYMPTOMS

• Early symptoms:
  • Weakness.
  • Duck-like gait. Lack of coordination.
  • Falling, with difficulty getting up.
  • Muscles appear larger and stronger but are weaker than normal.
• Later symptoms:
  • Muscle loss severe enough to require use of a wheelchair by age 9 to 12.
  • Severe distortion of the body.
  • Recurrent respiratory infections.

causes

Inherited. Muscular dystrophy is a genetic abnormality. It can be carried by a female who does not have symptoms, but passes it on to male children. In other cases, it may be passed on by one or both parents. In still other cases, there is no family history.

risk increases with

Family history of muscular dystrophy.

PREVENTIVE MEASURES

• If you have a family history of muscular dystrophy:
  • Obtain genetic counseling before starting a family.
  • If pregnant, consider testing to determine whether the fetus is male and the disorder is present.
  • Carriers can be detected with medical tests because their blood contains high levels of a certain enzyme.

expected outcomes

Outcome varies depending on the type of muscular dystrophy. Some types are more mild, progress slowly, and patients may have a near normal lifespan. Other types progress more rapidly, leading to disability and a shortened lifespan. Research is ongoing for causes, prevention, effective treatments, and possible cures.

possible complications

• Muscle weakness that leads to wheelchair use.
• Fractures or injuries from falls.
• Spinal curvature caused by weak spine muscles.
• Pneumonia.
• Heart problems.
• Muscle shortening and tightening (contractures).

 diagnosis & treatment

general measures

• Your child's health care provider will do a physical exam and ask questions about the symptoms. Medical tests may include blood studies and muscle biopsy. A biopsy involves removal of a small amount of tissue for viewing under a microscope. An electromyogram (measures electrical impulses in muscles) and nerve conduction study may be done.
• There is no cure for muscular dystrophy. Treatment can help improve the symptoms and help prevent complications. A child will need to be assisted in many ways to make the most of his abilities and keep his independence to the extent possible.
• Your child will need a health care team. This may include physical, occupational, speech, and respiratory therapists as well as routine medical care. Illnesses are more common and need to be watched for and treated.
• Surgery may be needed to release tight, painful muscles. If heart problems develop, a pacemaker may be surgically implanted to help the heart beat normally.
• Counseling can help parents cope with the diagnosis. It can help children if emotional problems develop.
• Support groups are a good place to share problems.
• To learn more: Muscular Dystrophy Association, 3300 Sunrise Drive, Tucson, AZ 85718; (800) 572-1717; website: www.mdausa.org.

medications

Drugs may be prescribed to slow muscle loss, improve lung function, treat heart problems, for constipation, to treat infections, or for other complications.

activity

The patient should be as physically and mentally active as possible. Many devices can help overcome handicaps caused by weakness. Braces may help.

diet

Eat a well-balanced diet. Being overweight should be avoided (it adds more burden to already weak muscles).

 notify our office if

• Your child develops muscular dystrophy symptoms.
• After diagnosis, symptoms occur that cause concern.

Special Notes: