Oculopharyngeal muscular dystrophy


Type of disease: Rare conditions

Oculopharyngeal muscular dystrophy (OPMD) is a genetic muscle disorder with onset during adulthood, most often between 40 and 60 years of age. This condition is characterized by slowly progressive muscle disease (myopathy) affecting the muscles of the upper eyelids and the throat.  There are two types of OPMD, which are distinguished by their patterns of inheritance. They are known as the autosomal dominant and autosomal recessive types. Both types are caused by mutations in the PABPN1 gene. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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