oculopharyngeal muscular dystrophy

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Noun

oculopharyngeal muscular dystrophy - a form of muscular dystrophy that usually begins between early adulthood and middle age and first affects muscles of the eyelid and throat; progresses slowly with swallowing problems common as the disease progresses; inheritance is autosomal dominant

dystrophy, muscular dystrophy - any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles

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ASX: BLT; NASDAQ: BNTC; NASDAQ: BNTCW) has received US Food and Drug Administration orphan drug designation for BB-301, its DNA directed RNA interference (ddRNAi) therapeutic for the treatment of oculopharyngeal muscular dystrophy (OPMD), the company said.

US FDA Grants Benitec Orphan Drug Designation for ddRNAi Therapeutic for Treatment of Oculopharyngeal Muscular Dystrophy

Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA.

Oculopharyngeal Weakness, Hypophrenia, Deafness, and Impaired Vision: A Novel Autosomal Dominant Myopathy with Rimmed Vacuoles

Nuclear accumulation of expanded PABP2 gene product in oculopharyngeal muscular dystrophy.

A South African family with oculopharyngeal muscular dystrophy: clinical and molecular genetic characteristics

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