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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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