Autosomal dominant in majority of cases (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 neuromuscular disease or autosomal recessive. The most common inheritance of OPMD is autosomal dominant, which means only one copy of the mutated gene needs to be present in each cell. Children of an affected parent have a 50% chance of inheriting the mutant gene.[2]
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]
^ ab"Oculopharyngeal muscular dystrophy | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 3 January 2018.
^ abcTrollet, Capucine; Gidaro, Teresa; Klein, Pierre; Périé, Sophie; Butler-Browne, Gillian; Lacau St Guily, Jean (1993-01-01). Pagon, Roberta A.; Adam, Margaret P.; Ardinger, Holly H.; Wallace, Stephanie E.; Amemiya, Anne; Bean, Lora J.H.; Bird, Thomas D.; Fong, Chin-To; Mefford, Heather C. (eds.). Oculopharyngeal Muscular Dystrophy. Seattle (WA): University of Washington, Seattle. PMID 20301305.update 2014
^ abReference, Genetics Home. "oculopharyngeal muscular dystrophy". Genetics Home Reference. Retrieved 2016-05-28.
Oculopharyngealmusculardystrophy (OPMD) is a rare form of musculardystrophy with symptoms generally starting when an individual is 40 to 50 years old...
Musculardystrophies (MD) are a genetically and clinically heterogeneous group of rare neuromuscular diseases that cause progressive weakness and breakdown...
in the United States to raise money for the MuscularDystrophy Association (MDA). The MuscularDystrophy Association was founded in 1950 with hopes of...
various forms of musculardystrophy, including Duchenne, Becker, limb girdle, congenital, facioscapulohumeral, myotonic, oculopharyngeal, distal, and Emery–Dreifuss...
(under development with partner Biomics Biotechnologies)) Oculopharyngealmusculardystrophy (OPMD) "Benitec Biopharma". Australian Securities Exchange...
the coding region of this gene leads to autosomal dominant oculopharyngealmusculardystrophy (OPMD) disease. Multiple splice variants have been described...
of other important muscles of mastication and swallowing. Oculopharyngealmusculardystrophy is a genetic disease with palpebral ptosis, oropharyngeal...
Tsukahara T, Shimizu T, Arahata K (May 2001). "The product of an oculopharyngealmusculardystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates...
palatopharyngeal incompetence. Palatopharyngeal incompetence broadly refers to a muscular inability to sufficiently close the port between the nasopharynx and oropharynx...
chaperones reduce aggregate formation and death in a cell model of oculopharyngealmusculardystrophy". J. Biol. Chem. 277 (14): 12263–9. doi:10.1074/jbc.M109633200...
Rouleau GA, « Short GCG expansions in the PABP2 gene cause OculoPharyngealMuscularDystrophy », Nature Genet, 1998, 18, p. 1-4 Romero N.B, Monnier N, Viollet...
of musculardystrophy, including Becker, congenital, distal, Duchenne, Emery-Dreifuss facioscapulohumeral, limb-girdle, myotonic, and oculopharyngeal, muscular...
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