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How is oculopharyngeal muscular dystrophy diagnosed?

The first step in diagnosing oculopharyngeal muscular dystrophy is a physical exam that includes an analysis of your symptoms and a review of you and your family's medical histories. Often, that will be enough for a doctor to diagnose the disease. If necessary, a doctor may perform one of several tests. Blood samples can be used for DNA testing to diagnose the disease. If DNA testing is inconclusive, muscle biopsy may be done. This involves removing a small sample of muscle tissue to be analyzed under a microscope to look for certain indicators of oculopharyngeal muscular dystrophy.

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.