Facioscapulohumeral muscular dystrophy (Landouzy-Dejerine)

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Superficial anterior muscles

Landouzy-Dejerine muscular dystrophy

• Facial muscle weakness
  • Eyelid drooping
  • Inability to whistle
  • Decreased facial expression
  • Depressed or angry facial expression
  • Difficulty pronouncing words
• Shoulder weakness
  • Difficulty working with the arms raised
  • Sloping shoulders
  • Pronounced shoulder blades (scapular winging)
• Hearing loss (rare)
• Abnormal heart rhythm (rare)

A physical examination reveals weakness of the facial and shoulder muscles. Other body symptoms are rare. High blood pressure may occur but is usually mild.

• A serum creatine kinase test may be slightly elevated.
• An EMG (electromyography) may be nonspecific, or may have mixed features of muscle and nerve involvement.
• A muscle biopsy may be nonspecific, or may confirm the diagnosis.
• A hearing test may indicate hearing loss.
• An electrocardiogram (EKG) may indicate abnormal heart rhythm.
• An eye exam may show changes in the blood vessels in the back of the eye.

Review Date: 04/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.