Muscular Dystrophy

Muscular Dystrophy is a group of inherited, progressive muscle disorders. All forms of Muscular Dystrophy cause progressive weakness and degeneration of the muscles that control movement. Some also affect the heart muscle or other organs. Age of onset is between infancy to late teens. The most common form is called Duchenne dystrophy. Other forms include Becker (a milder form than Duchenne) and myotonic muscular dystrophy.

Causes

Muscular Dystrophy is an inherited condition that is caused by defects in genes that are passed from parent to child.

Risk Factors

A risk factor is something that increases your chances of getting a disease or condition.
  • Family member with muscular dystrophy
  • Sex: Male

Symptoms

Symptoms common to all forms of Muscular Dystrophy may include: Initial symptoms
  • Progressive weakening of muscles
  • Enlargement of muscles as they weaken
  • Clumsiness
  • Frequent falling and difficulty getting up
Later symptoms
  • Severe muscle deterioration, usually leading to use of a wheelchair
  • Distortion of the body
  • Muscle contraction and stiffening (often severe)
Symptoms specific to Duchenne and Becker dystrophy include:
  • Abnormally curved spine
  • Enlargement and weakening of the heart muscle
  • Pneumonia and other respiratory infections
Symptoms specific to myotonic muscular dystrophy can include:
  • Difficulty in letting go after a handshake
  • Muscle weakness that affects the central nervous system, heart, digestive tract, glands, or eyes
Symptoms usually become progressively worse. In many forms, life expectancy is shortened.

Diagnosis

The doctor will ask about your symptoms and medical history, and perform a physical exam.
  • Tests may include:
  • Muscle Tissue Biopsy - removal of a sample of muscle tissue for testing
  • Blood Enzyme Tests - testing a blood sample to look for elevated enzyme levels
  • Electromyogram (EMG) - measures electrical impulses coming from muscles
  • Nerve Conduction Study (NCV) - measures electrical impulses in the nerves

Diagnosis

Your doctor will ask about your fears and symptoms and may perform a physical exam. You may be referred to a mental health professional for a psychiatric evaluation.

Treatment

There is no cure for Muscular Dystrophy. However treatment may help improve the symptoms.
Treatment may consist of: Physical Therapy and Exercise
Physical therapy and exercise can help prevent the muscles from permanently contracting and stiffening.
Braces
In earlier stages, wearing braces on your limbs may improve your ability to move around without using a wheelchair. A back brace may retard curvature of the spine.
Medication
Medications may include:
  • Corticosteroids to relieve muscle weakness
  • Drugs for heart problems if muscular dystrophy affects the heart
Surgery
In severe cases, surgery may be required to release muscles that are painfully tight. If heart problems are involved, a pacemaker may be surgically implanted.

Prevention

Muscular Dystrophy is an inherited disease. Seek genetic counseling if you are concerned about having a child with Muscular Dystrophy, especially if:
  • You have muscular dystrophy
  • You may be a carrier of the gene for muscular dystrophy
  • You are your partner have a family history of the disease