Oculopharyngeal muscular dystrophy - an under-diagnosed disorder?

Rüegg, Stephan; Lehky Hagen, Monique; Hohl, Ursula; Kappos, Ludwig; Fuhr, Peter; Plasilov, Martina; Müller, Hansjakob; Heinimann, Karl (2005). Oculopharyngeal muscular dystrophy - an under-diagnosed disorder? Swiss medical weekly, 39-40(135), pp. 574-86. Muttenz: EMH Schweizerischer Ärzteverlag

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Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant muscle disorder, usually of late onset. OPMD is among the few triplet repeat diseases/ polyalanine (poly(A)) expansion diseases for which the function of the mutated gene is quite well established. The disease is characterised by slowly progressive bilateral ptosis, dysphagia and proximal limb weakness, appearing after the age of 40 years. Prevalence and incidence of OPMD are low, but the disease occurs all over the world. The pedigrees of two Swiss kindred have been previously reported in Switzerland. In the last 2 years, accumulation of newly diagnosed cases in North-West Switzerland have been observed, which suggests that OPMD may be more prevalent than previously thought. Primary care providers, opthalmologists and neurologists that are alert for the almost specific combination of clinical signs, together with the availability of reliable genetic testing may help to recognise currently undiagnosed patients. They can advance knowledge and the characterisation of the OPMD population in Switzerland. Since the number of disorders linked to poly(A) expansions is growing rapidly, the study of OPMD may contribute to the understanding of a large group of other developmental and degenerative diseases. On the basis of a patient with "classical" OPMD, this review summarises the clinical, therapeutic, epidemiological, pathomechanistic and genetic aspects of OPMD, provides practical information about the differential diagnosis of OPMD, and presents a survey of different investigational methods.

Item Type:

Journal Article (Further Contribution)


04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology

UniBE Contributor:

Hohl, Ursula






EMH Schweizerischer Ärzteverlag




Factscience Import

Date Deposited:

04 Oct 2013 15:06

Last Modified:

04 May 2014 23:20

PubMed ID:


Web of Science ID:



https://boris.unibe.ch/id/eprint/28731 (FactScience: 127935)

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