Oculopharyngeal Muscular Dystrophy
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NORD is very grateful to Dr. Michael Lee, Professor of Ophthalmology, Neurology, and Neurosurgery, University of Minnesota, for their assistance in creating this report.
Synonyms of Oculopharyngeal Muscular Dystrophy
- autosomal dominant OPMD
- autosomal recessive OPMD
- No subdivisions found.
Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic muscle disorder with onset during adulthood most often between 40 and 60 years of age. OPMD is characterized by slowly progressive muscle disease (myopathy) affecting the muscles of the upper eyelids and the throat. Affected individuals may develop drooping of the eyelids (ptosis), trouble moving their eyes (ophthalmoplegia) and/or difficulty swallowing (dysphagia). Double vision (diplopia) is uncommon. Eventually, additional muscles may become involved including those of the upper legs and arms (proximal limb weakness). In some cases, muscle weakness of the legs may eventually cause difficulty walking. OPMD may be inherited as an autosomal dominant or recessive trait.
OPMD belongs to a group of rare genetic muscle disorders known as the muscular dystrophies. These disorders are characterized by weakness and atrophy of various voluntary muscles of the body. Approximately 30 different disorders make up the muscular dystrophies. The disorders affect different muscles and have different ages of onset, severity and inheritance patterns. Unlike OPMD, most forms of muscular dystrophy have onset during childhood or adolescence.
Oculopharyngeal Muscular Dystrophy Resources
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