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.
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: 4/20/2005
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.
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