Oculopharyngeal muscular dystrophy
Oculopharyngeal muscular dystrophy | |
---|---|
Other names | Muscular dystrophy, oculopharyngeal autosomal recessive minority) |
Specialty | Neurology |
Symptoms | Dysphagia[2] |
Causes | Mutations on the PABPN1 gene[3] |
Diagnostic method | Muscle biopsy[2] |
Treatment | Orthopedic devices for management [1] |
Oculopharyngeal muscular dystrophy (OPMD) is a rare form of muscular dystrophy with symptoms generally starting when an individual is 40 to 50 years old. It can be
Autosomal dominant inheritance is the most common form of inheritance. Less commonly, OPMD can be inherited in an autosomal recessive pattern, which means that two copies of the mutated gene need to be present in each cell, both parents need to be carriers of the mutated gene, and usually show no signs or symptoms. The PABPN1 mutation contains a GCG trinucleotide repeat [4] at the 5' end of the coding region, and expansion of this repeat which then leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease.[5][3]
Signs and symptoms
In terms of the signs (and symptoms) of oculopharyngeal muscular dystrophy would be consistent with the following:[2][6]
- Weakness of the extraocular muscles
- Aspiration pneumonia (complication)
- Proximal limb weakness
Though the aforementioned signs/symptoms are the most common, there have been cases though rare, where the peripheral nervous system has had involvement with significant reduction of
In
Genetics
The genetics of this type of muscular dystrophy revolve around the
The expansion caused by the mutations on the PABPN1 gene ultimately interrupts the cellular mechanics of poly(A)
The
Diagnosis
The diagnosis of oculopharyngeal muscular dystrophy can be done via two methods, a muscle biopsy or a blood draw with genetic testing for GCG trinucleotide expansions in the PABPN1 gene. The genetic blood testing is more common. Additionally, a distinction between OPMD and myasthenia gravis or mitochondrial myopathy must be made, in regards to the differential diagnosis of this condition.[2]
Treatment
Currently no cure or specific treatment exists to eliminate the symptoms or stop the disease progression. A consistent diet planned with the help of a
Epidemiology
The disease is found across 5 continents (30 countries) and is frequently seen in French Canadians, with a prevalence 1:1000. OPMD affects males and females equally, and affected individuals have been found in Europe (
See also
References
- ^ a b "Oculopharyngeal muscular dystrophy | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 3 January 2018.
- ^ PMID 20301305.update 2014
- ^ a b c Reference, Genetics Home. "oculopharyngeal muscular dystrophy". Genetics Home Reference. Retrieved 2016-05-28.
- ^ a b "OMIM Entry - * 602279 - POLYADENYLATE-BINDING PROTEIN, NUCLEAR, 1; PABPN1". www.omim.org. Retrieved 2016-05-29.
- ^ https://www.ncbi.nlm.nih.gov/gene/8106 "PABPN1 poly(A) binding protein, nuclear 1 [ Homo sapiens (human) ]"]11 OCT 2014.
- ^ a b "Oculopharyngeal muscular dystrophy" (PDF). Retrieved 28 May 2016.
- ^ "OMIM Entry - # 164300 - OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD". www.omim.org. Retrieved 2016-05-29.
- ^ Reference, Genetics Home. "What is a gene?". Genetics Home Reference. Retrieved 2016-05-29.
- PMID 16530457.
- S2CID 20281205.
- PMID 28361972.
- ^ "Oculopharyngeal muscular dystrophy | Disease | Your Questions Answered | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 2016-08-03. Retrieved 2016-05-29.
Further reading
- Raz, Yotam; Raz, Vered (2014-01-01). "Oculopharyngeal muscular dystrophy as a paradigm for muscle aging". Frontiers in Aging Neuroscience. 6: 317. PMID 25426070.
- Hill, M. E.; Creed, G. A.; McMullan, T. F. W.; Tyers, A. G.; Hilton-Jones, D.; Robinson, D. O.; Hammans, S. R. (1 March 2001). "Oculopharyngeal muscular dystrophy". Brain. 124 (3): 522–526. PMID 11222452.
- Gómez-Torres, Antonio; Abrante Jiménez, Antonio; Rivas Infante, Eloy; Menoyo Bueno, Alicia; Tirado Zamora, Isabel; Esteban Ortega, Francisco (November 2012). "Cricopharyngeal Myotomy in the Treatment of Oculopharyngeal Muscular Dystrophy". Acta Otorrinolaringologica (English Edition). 63 (6): 465–469. PMID 22898142.
- Oculopharyngeal muscular dystrophy at NIH's Office of Rare Diseases