From Wikipedia, the free encyclopedia
Oculopharyngeal dystrophy (OPD, or oculopharyngeal muscular dystrophy) is an autosomal dominant disorder which appears in early middle age (sixth decade)[1] in individuals with a mutation on the PABPN1 gene.[2][3]
[edit] Presentation
Progressive ptosis (drooping) of the extraocular muscles is the initial clinical finding which continues until paralysis of all eye movements occurs; however, pupillary reactions remain unaffected. Dysphagia (difficulty swallowing), facial weakness and proximal limb weakness develops later on in the disease.
[edit] Diagnosis
When investigated in a laboratory, findings include high creatine phosphokinase (CPK) levels (approximately 5 times that of normal levels).
A muscle biopsy reveals abnormal vacuoles within muscle fibres. A distinction between OPD and myasthenia gravis or mitochondrial myopathy must be made, in which ptosis is also a symptom.
[edit] Treatment
Treatment is supportive to the patient with death eventually occurring from infections. Difficulty with swallowing may result in nasogastric feeding.[2]
[edit] References
- ^ Brais B, Bouchard JP, Xie YG, et al. (February 1998). "Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy". Nat. Genet. 18 (2): 164–7. doi:10.1038/ng0298-164. PMID 9462747.
- ^ a b Lindsay, Kenneth W; Ian Bone, Robin Callander, J. van Gijn (1991). Neurology and Neurosurgery Illustrated. United States: Churchill Livingstone. pp. 453. ISBN 0-443-04345-0.
- ^ 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:10.1016/j.nmd.2004.10.016. PMID 15725589. http://linkinghub.elsevier.com/retrieve/pii/S0960-8966(04)00308-6.
[edit] External links
|
Muscular Dystrophy |
|
| The Nine Primary Muscular Dystrophies |
|
|
|
Related topics
|
|
| National/International Organizations |
|
|
| US government Institutes and Legislation |
|
|
| National/International Events |
|
|
| Recent or Ongoing Clinical Trials |
|
|
