Saturday, February, 11, 2012

Duchenne muscular dystrophy

Table of Contents

Alternative Names

Pseudohypertrophic muscular dystrophy; Muscular dystrophy - Duchenne type


Symptoms

Symptoms usually appear before age 6 and may appear as early as infancy. They may include:

  • Fatigue
  • Mental retardation (possible, but does not worsen over time)
  • Muscle weakness
    • Begins in the legs and pelvis, but also occurs less severely in the arms, neck, and other areas of the body
    • Difficulty with motor skills (running, hopping, jumping)
    • Frequent falls
    • Rapidly worsening weakness
  • Progressive difficulty walking
    • Ability to walk may be lost by age 12

By age 10, the person may need braces for walking. By age 12, most patients are confined to a wheelchair.


Signs and tests

A complete nervous system (neurological), heart, lung, and muscle exam may show:

  • Abnormal heart muscle (cardiomyopathy)
  • Congestive heart failure or irregular heart rhythm (arrhythmias) -- rare
  • Deformities of the chest and back (scoliosis)
  • Enlarged calf muscles, which are eventually replaced by fat and connective tissue (pseudohypertrophy)
  • Loss of muscle mass (wasting)
  • Muscle contractures in the heels, legs
  • Muscle deformities
  • Respiratory disorders, including pneumonia and aspiration of food or fluid into the lungs (in late stages of the disease)

Tests may include:

  • Electromyography (EMG)
  • Genetic tests
  • Muscle biopsy
  • Serum CPK

Review Date: 03/09/2010
Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine; Daniel B. Hoch, PhD, MD, Assistant Professor of Neurology, Harvard Medical School, Department of Neurology, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)