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| Oculopharyngeal muscular dystrophy Classification and external resources |
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| ICD-10 | G71.0 |
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| ICD-9 | 359.1 |
| OMIM | 164300 |
| DiseasesDB | 29869 |
| MeSH | D039141 |
Oculopharyngeal dystrophy (OPD), or oculopharyngeal muscular dystrophy, is a form of muscular dystrophy characterized in some stages by deformation of the eyelid, speech impediment, and difficulty swallowing due to dystrophia of the pharynx.
There is some evidence associating it with PABPN1.1
References
- ^ Goh KJ, Wong KT, Nishino I, Minami N, Nonaka I (2005). "Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman". Neuromuscul. Disord. 15 (3): 262–4. doi:. PMID 15725589, http://linkinghub.elsevier.com/retrieve/pii/S0960-8966(04)00308-6.
External links
- opmd at NIH/UW GeneTests
- Muscular Dystrophy Association's website in Greece
- Oculopharyngeal muscular dystrophy at NIH's Office of Rare Diseases
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