Oculopharyngeal muscular dystrophy
Last revised by David Luong on 27 Jul 2021
Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Luong D, Oculopharyngeal muscular dystrophy. Reference article, Radiopaedia.org (Accessed on 16 Apr 2024) https://radiopaedia.org/articles/68466?iframe=true
DOI:
-
rID:
68466
Article created:
2 Jun 2019,
Yuranga Weerakkody ◉
Disclosures:
At the time the article was created Yuranga Weerakkody had no recorded disclosures.
View Yuranga Weerakkody's current disclosures
Last revised:
27 Jul 2021,
David Luong ◉
Disclosures:
At the time the article was last revised David Luong had no recorded disclosures.
View David Luong's current disclosures
Revisions:
2 times, by
2 contributors -
see full revision history and disclosures
Systems:
Synonyms:
- Oculopharyngeal muscular dystrophy (OPMD)
Oculopharyngeal muscular dystrophy is rare form of muscular dystrophy characterized by ptosis and swallowing difficulties due to selective involvement of the muscles of the eyelid and pharynx. It can also affect other muscles such as the soleus and adductor magnus 1.
Pathology
It is thought to be caused by an abnormal expansion of GCN triplets within the PABPN1 gene.
References
- 1. Alonso-Jimenez A, Kroon RHMJM, Alejaldre-Monforte A, Nuñez-Peralta C, Horlings CGC, van Engelen BGM, Olivé M, González L, Verges-Gil E, Paradas C, Márquez C, Garibaldi M, Gallano P, Rodriguez MJ, Gonzalez-Quereda L, Dominguez Gonzalez C, Vissing J, Fornander F, Eisum AV, García-Sobrino T, Pardo J, García-Figueiras R, Muelas N, Vilchez JJ, Kapetanovic S, Tasca G, Monforte M, Ricci E, Gomez MT, Bevilacqua JA, Diaz-Jara J, Zamorano II, Carlier RY, Laforet P, Pelayo-Negro A, Ramos-Fransi A, Martínez A, Marini-Bettolo C, Straub V, Gutiérrez G, Stojkovic T, Martín MA, Morís G, Fernández-Torrón R, Lopez De Munaín A, Cortes-Vicente E, Querol L, Rojas-García R, Illa I, Diaz-Manera J. Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy. (2019) Journal of neurology, neurosurgery, and psychiatry. 90 (5): 576-585. doi:10.1136/jnnp-2018-319578 - Pubmed
- 2. King MK, Lee RR, Davis LE. Magnetic resonance imaging and computed tomography of skeletal muscles in oculopharyngeal muscular dystrophy. (2005) Journal of clinical neuromuscular disease. 6 (3): 103-8. doi:10.1097/01.cnd.0000152060.57673.25 - Pubmed
- 3. Rüegg S, Lehky Hagen M, Hohl U, Kappos L, Fuhr P, Plasilov M, Müller H, Heinimann K. Oculopharyngeal muscular dystrophy - an under-diagnosed disorder?. (2005) Swiss medical weekly. 135 (39-40): 574-86. doi:2005/39/smw-11221 - Pubmed
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