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Facioscapulohumeral muscular dystrophy (Landouzy-Dejerine) |
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| Alternative Names: | Facioscapulohumeral
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| 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)
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| 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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Review Date: 7/25/2003
Reviewed By: Douglas R. Stewart, M. D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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