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Facioscapulohumeral muscular dystrophy (Landouzy-Dejerine)



Superficial anterior muscles
Superficial anterior muscles


Facioscapulohumeral muscular dystrophy (Landouzy-Dejerine)

Alternative Names:

Facioscapulohumeral muscular dystrophy
Symptoms:
  • 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)

Signs and tests:

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.



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