Muscular Dystrophy / MD (Pediatric)

What is muscular dystrophy?

Muscular dystrophy (MD) is a genetically-inherited condition that breaks down the muscles and replaces them with fatty deposits. Muscular dystrophy is associated with heart problems, scoliosis (a curvature and rotation of the spine), and obesity. In children, MD is usually diagnosed between the ages of 3 and 6 years old.

The two most common forms of this condition are Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy, a version less severe than DMD. Girls are rarely affected by either of these conditions.

What are the symptoms of muscular dystrophy?

Initial symptoms may include:

  • delay in walking
  • difficulty rising from a sitting or lying position
  • frequent falling
  • weakness in the pelvic and shoulder muscles

Other symptoms may include:

  • clumsiness
  • difficulty climbing stairs
  • facial weakness
  • inability to close eyes
  • inability to jump or hop
  • inability to whistle
  • leg pain
  • walking on tiptoes

Children with muscular dystrophy often have large calves as a result of large fatty deposits replacing normal muscle tissue.

How is muscular dystrophy diagnosed?

We take a complete prenatal and birth history and ask if other family members have muscular dystrophy.

Diagnostic tests for muscular dystrophy are:

  • Blood tests may done and include genetic analysis.
  • Muscle biopsy is when a small needle inserted into a muscle takes a sample of tissue. This sample goes to a laboratory and is examined under a microscope.
  • Electromyogram (EMG) entails inserting small needles (electrodes) through skin to the muscle.
  • Electrocardiogram (ECG or EKG) is a noninvasive test that records electrical activity of the heart and shows abnormal rhythms (arrhythmias or dysrhythmias) and any heart muscle damage.

What is the treatment for muscular dystrophy?

Muscular dystrophy is a lifelong condition that can be managed by:

  • braces and splints to prevent deformity and provide support and protection
  • medications
  • nutritional counseling
  • physical therapy
  • positioning aids help the patient to sit, lie, or stand
  • psychological counseling

Surgery may be needed to address scoliosis (an "s" curvature of the backbone) associated with muscular dystrophy and make it possible for children to sit or stand.

Currently, treatment for patients with muscular dystrophy is an active area of research, and there are ongoing clinical trials assessing new therapies.

Our treatments help children to be as independent as possible and prevent any future damage from MD. We work with families to provide ongoing care and improve their children's ability to function.