Facioscapulohumeral muscular dystrophy (Landouzy-Dejerine)

Alternative names:

facioscapulohumeral

Symptoms:

• facial muscle weakness
  • eyelid drooping
  • inability to whistle
  • decreased facial expression
  • depressed or angry facial expression

• shoulder weakness
  • difficulty working with the arms raised
  • sloping shoulders
  • pronounced shoulder blades (scapular winging)

Signs and tests:

An examination indicates weakness of the facial and shoulder muscles. Involvement of other body symptoms (such as the lungs and heart) is rare. High blood pressure (hypertension) may occur but is usually mild.

• A serum creatine kinase may be normal or 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.