Duchenne's Muscular Dystrophy (DMD)

What is Duchenne’s Muscular Dystrophy?

Duchenne’s Muscular Dystrophy (DMD) is an inherited genetic disorder primarily affecting boys, however, it can also affect girls in some cases. It is the most common childhood form of muscular dystrophy. A degenerative muscle-wasting disorder, Duchenne’s Muscular Dystrophy is caused by a mutation in an X chromosome gene. This mutation causes the body to produce an abnormal version of a protein called dystrophin, which is necessary for the maintenance and repair of muscle cells. As the disease progresses, muscular dystrophy weakens the muscle of the limbs and torso, as well as the heart and respiratory muscles.

Signs and Symptoms of Duchenne’s Muscular Dystrophy

The early signs and symptoms of Duchenne’s Muscular Dystrophy can include:

  • Delayed walking or delayed learning of simple motor skills
  • Frequent falls
  • Loss of the ability to walk typically occurring by age 12
  • Muscle weakness, especially in the legs and hips
  • Loss of muscle mass
  • Difficulty getting up after lying down
  • Difficulty climbing stairs
  • Waddling walk
  • Learning difficulties
  • Increase in abnormal touch receptors

As the disorder progresses, the symptoms become more severe. These may include:

  • Loss of independent mobility
  • Scoliosis (curvature of the spine)
  • Joint contracture (stiff, rigid joints)
  • Progressive cardiomyopathy (heart muscle damage)
  • Weakness in even the most basic movement of the arms, legs, torso, and neck
  • Hip Dysplasia
  • Lung complications

Diagnosing Duchenne’s Muscular Dystrophy

Duchenne’s Muscular Dystrophy is usually diagnosed using an array of tests, including:

  • Medical and family history
  • Physical exam
  • DNA testing
  • Muscle biopsy
  • Electromyography
  • X-rays
  • CT scan or MRI to check for scoliosis
  • Cardiac pathophysiology test to measure heart function
  • Pulmonary function tests to evaluate breathing

Treatment of Duchenne’s Muscular Dystrophy

There is no known cure for Duchenne’s Muscular Dystrophy, but there is treatment available to help manage the progression of the disease. Treatment may include:

  • Physical therapy
  • Bracing
  • Orthopedic surgery
  • Occupational therapy
  • Assisted ventilation
  • Cardiac monitoring
  • Nutritional counseling and dietary supplements
  • Medications for improving breathing function