What is OPMD-En

OPMD Diagnosis

How is OPMD diagnosed? A specialist in neuromuscular diseases will ask about your health history and your symptoms and family health history. The doctor will do a thorough physical exam. Your test may also include:  Genetic blood test Swallowing tests  Video studies of swallowing   Nerve conduction studies and electromyography (EMG)  Muscle biopsy to look for

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OPMD | Efrat Strusberg By My Sight

Genetics of OPMD

OPMD can be inherited as autosomal dominant or autosomal recessive  neuro-muscular disease. The most common mode of inheritance is autosomal dominant. Unlike in autosomal recessive disorders, in autosomal dominant OPMD presence of one copy of the mutated gene within each cell is sufficient to cause the disease. Children of an affected parent have a 50%

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About OPMD

About OPMD

Oculo-pharyngeal muscular dystrophy (OPMD) is a rare genetic condition. It causes weakness in the muscles, mostly but not only, of the head and neck. OPMD may cause problems in vision, swallowing, talking and walking. It affects both men and women starting between 40 and 60 years of age. OPMD generally doesn’t shorten a person’s life span.

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