KEGG   DISEASE: Oculopharyngeal muscular dystrophyHelp
Entry
H00704                      Disease                                

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
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H00704  Oculopharyngeal muscular dystrophy
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Strabismus or ocular motility
   9C82  Disorders of extraocular muscles
    H00704  Oculopharyngeal muscular dystrophy
BRITE hierarchy
Pathway
hsa03015  mRNA surveillance pathway
Gene
PABPN1 [HSA:8106] [KO:K14396]
Other DBs
ICD-11: 9C82.1
ICD-10: G71.0
MeSH: D039141
OMIM: 164300
Reference
  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
Reference
  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
Reference
  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

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