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| Oculopharyngeal muscular dystrophy | |
|---|---|
| Classification and external resources | |
| ICD-10 | G710 |
| ICD-9 | 359.1 |
| OMIM | 164300 |
| DiseasesDB | 29869 |
| MeSH | D039141 |
| GeneReviews | Template:Citation/make link |
Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant[1] neuromuscular disease which appears in early middle age (fifth decade).[2] OPMD is an example of a trinucleotide repeat disorder caused by expanding (GCN)10 to (GCN)11-17 at the 5' end of the coding region for PABPN1. This expands the polyalanine tract at the N-terminus of PABPN1 from 10 to 11-17 alanines.[3][4]
Signs and symptoms[]
Progressive ptosis (drooping of eyelids) and weakness of the extraocular muscles is the initial clinical finding.. Dysphagia (difficulty swallowing) and proximal limb weakness develops later on in the disease. [2]
Diagnosis[]
A muscle biopsy used to be the only method to diagnose the condition. Today a simple blood draw with genetic testing for the PABPN1 gene is more common. A distinction between OPMD and myasthenia gravis or mitochondrial myopathy must be made. The absence of family history and the fluctuation of symptoms in myasthenia gravis usually distinguish the two conditions.[5]
Epidemiology[]
The disease is frequently seen in French Canadians, with a prevalence 1:1000. A 1997 study from Israel showed the second largest cluster of known individuals are of Bukhara Jews from Uzbekistan, with a calculated minimal prevalence of 1:600. [6] The disease is uncommon in Asian populations. [7]
Treatment[]
Treatment is supportive to the patient. The condition does not generally reduce lifespan. Extreme difficulty in swallowing may result in the insertion of a gastrointestinal feeding tube.[3] Some surgeries are available that can reduce ptosis and dysphagia.[8]
References[]
- ↑ PMID 16530457 (PMID 16530457)
Citation will be completed automatically in a few minutes. Jump the queue or expand by hand - ↑ 2.0 2.1 Brais B, Bouchard JP, Xie YG, et al. (Feb 1998). Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat. Genet. 18 (2): 164–7.
- ↑ 3.0 3.1 Lindsay, Kenneth W; Ian Bone, Robin Callander, J. van Gijn (1991). Neurology and Neurosurgery Illustrated, 453, United States: Churchill Livingstone.
- ↑ 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.
- ↑ GeneReviews/NCBI/NIH/UW entry on Oculopharyngeal Muscular Dystrophy
- ↑ Blumen SC, Nisipeanu P, Sadeh M, et al. (October 1997). Epidemiology and inheritance of oculopharyngeal muscular dystrophy in Israel. Neuromuscul. Disord. 7 (Suppl 1): S38–40.
- ↑ http://memo.cgu.edu.tw/cgmj/3301/330105.pdf
- ↑ Brais, B (2009 Jan). Oculopharyngeal muscular dystrophy: a polyalanine myopathy.. Current neurology and neuroscience reports 9 (1): 76–82.
External links[]
- GeneTests at NIH/UW opmd
- Muscular Dystrophy Association's website in Greece
- Template:RareDiseases
- GeneReviews Washington State University, funded by NIH
Muscular Dystrophy | |
|---|---|
| The Nine Primary Muscular Dystrophies |
Becker's • Congenital • Duchenne • Distal • Emery-Dreifuss • Facioscapulohumeral • Limb-girdle muscular dystrophy • Myotonic • Oculopharyngeal |
|
Related topics | |
| National/International Organizations |
Muscular Dystrophy Association (USA) . Muscular Dystrophy Canada |
| US government Institutes and Legislation |
NINDS • NIAMS • NICHD • MD CARE Act • Genetic Information Nondiscrimination Act • Americans with Disabilities Act of 1990 |
| National/International Events |
Jerry Lewis MDA Telethon (USA) |
| Recent or Ongoing Clinical Trials |
Stamulumab (MYO-029) |
Diseases of myoneural junction and muscle / neuromuscular disease (G70–G73, 358–359) | |||||||||||||||||||||||||||||
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| Myopathy/ congenital myopathy |
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