oculopharyngeal muscular dystrophies 《英文msh词典》Oculopharyngeal Muscular Dystrophies ; [入口词] Oculopharyngeal Muscular Dystrophies ; [主题词] Muscular Dystrophy,Oculopharyngeal ; [英文释义] An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular distrophy.
oculopalatal myoclonus 《英文msh词典》Oculopalatal Myoclonus ; [入口词] Oculopalatal Myoclonus ; [主题词] Myoclonus ; [英文释义] Involuntary shock-like contractions,irregular in rhythm and amplitude,followed by relaxation,of a muscle or a group of muscles. This condition may be a feature of some CENTRAL NERVOUS SYSTEMS DISEASES (e.g.,EPILEPSY,MYOCLONIC). Nocturnal myoclonus may represent a normal physiologic event or occur as the principal feature of the NOCTURNAL MYOCLONUS SYNDROME. (From Adams et al.,Principles of Neurology,6th ed,pp102-3).