Duchenne Muscular Dystrophy

(DMD; Pseudohypertrophic Muscular Dystrophy)

Definition

Duchenne muscular dystrophy (DMD) is a genetic disease. The main sign of DMD is muscle weakness that worsens over time. Before age 5, the muscles in the legs, arms, and trunk begin to weaken. Later in the disease, the heart and respiratory muscles weaken.

Causes

DMD is caused by a genetic mutation. The mutation causes the gene to make inadequate amounts of a protein called dystrophin. This protein is needed to keep muscles intact.

Risk Factors

Male children and children with a family history of DMD are at increased risk.

Symptoms

Symptoms of DMD may include:
  • Child is late in learning to walk
  • Larger than normal calf muscles
  • Frequent falls
  • Clumsy walking
  • Difficulty climbing stairs
  • Trouble running
  • Walking on toes or balls of feet
  • Trouble with balance
  • Walking with shoulders back and belly out
  • Trouble keeping up with friends when playing
  • Learning disabilities
Contracture of the Hand
IMAGE
© Nucleus Medical Media, Inc.

Diagnosis

You will be asked about your child’s symptoms and medical history. A physical exam will be done. You will be asked if there is any family history of neuromuscular disease. The exam will focus on your child’s muscles. Signs of weakness will be looked for. Your child will likely be referred to a specialist.Your child's bodily fluids and tissues may be tested. This can be done with: Your child's nerves and muscles may be tested. This can be done with electromyography (EMG).
EMG of the Shoulder
EMG shoulder 2
© Nucleus Medical Media, Inc.

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