| H00704 | |
| H number | H00704 |
| Name | Oculopharyngeal muscular dystrophy |
| Description | Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant, late-onset muscle disease associated with progressive ptosis of the eyelids, dysphagia, and unique tubulofilamentous intranuclear inclusions (INIs) in skeletal muscle. OPMD is caused by expansions of the short (GCG) trinucleotide repeat in the coding sequence of the poly(A) binding protein nuclear 1 (PABPN1) gene. To date OPMD is considered as a primary myopathic disorder and there is little morphologic evidence for neurogenic etiology, though the peripheral nervous system (PNS) seems to be affected in some rare cases. |
| Category | Nervous system disease; Musculoskeletal disease |
| Network | - |
| Gene | PABPN1 [HSA:8106] [KO:K14396] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 9C82.1 ICD-10: G71.0 MeSH: D039141 OMIM: 164300 |
| Reference | PMID:17110089 AUTHORS Abu-Baker A, Rouleau GA TITLE Oculopharyngeal muscular dystrophy: recent advances in the understanding of the molecular pathogenic mechanisms and treatment strategies. JOURNAL Biochim Biophys Acta 1772:173-85 (2007) DOI:10.1016/j.bbadis.2006.10.003 PMID:19080757 AUTHORS Brais B TITLE Oculopharyngeal muscular dystrophy: a polyalanine myopathy. JOURNAL Curr Neurol Neurosci Rep 9:76-82 (2009) DOI:10.1007/s11910-009-0012-y PMID:22001477 AUTHORS Mizoi Y, Yamamoto T, Minami N, Ohkuma A, Nonaka I, Nishino I, Tamura N, Amano T, Araki N TITLE Oculopharyngeal muscular dystrophy associated with dementia. JOURNAL Intern Med 50:2409-12 (2011) DOI:10.2169/internalmedicine.50.5577 |