Oculopharyngeal muscular dystrophy

PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “From gene to disease; the PABN1 gene and oculopharyngeal muscular dystrophy” (Ned Tijdschr Geneeskd. 2006 May 20;150(20):1124-6). Authors are Schreuder AH, de Die-Smulders CE, Herbergs J et al from the Atrium Medisch Centrum, afd Neurologie, Heerlen. Oculopharyngeal muscular dystrophy is a rare disease, presenting with bilateral ptosis and dysphagia, followed by slow progressive muscle weakness. The pathological hallmark of the disease is the presence of intranuclear inclusions in muscle cells. Inheritance is autosomal dominant in almost all cases. The mutation responsible is a short guanine-cytosine-guanine (GCG) expansion in the ‘poly adenylate binding nuclear I protein’ (PABN1) gene. To access the full abstract of the article, click here.