A new disease profile is added to our database – Oculopharyngeal muscular dystrophy, (OPMD). Oculopharyngeal muscular dystrophy (OPMD) is characterized by late-onset (usually after the age of 45 years) eyelid drooping (ptosis), swallowing difficulty (dysphagia), and a positive family history with involvement of two or more generations. Oculopharyngeal muscular dystrophy is inherited in either an autosomal dominant or an autosomal recessive manner. PABPN1, encoding the polyadenylate binding protein nuclear 1, is the only gene known to be associated with OPMD. To receive a full description of this rare disease absolutely free of charge, please click here and send us a request. The profile was written by our consultant in neurology – Dr. Pavel Balabanov, MD.
European database for primary immunodeficiencies