Delayed diagnosis of oculopharyngeal muscular dystrophy in Scotland
- Pankaj Kumar Agarwal1,
- David C Mansfield1,
- Dorothy Mechan2,
- Rustam Al-Shahi Salman3,
- Richard J Davenport3,
- Myles Connor4,
- Richard Metcalfe5,
- Richard Petty5
- 1Department of Ophthalmology, Inverclyde Royal Hospital, Greenock, UK
- 2East of Scotland Regional Genetic Service, Ninewells Hospital, Dundee, UK
- 3Department of Clinical Neurosciences, Western General Hospital, Edinburgh, UK
- 4Department of Neurology, Queen Margaret Hospital, Dunfermline, UK
- 5Department of Neurology, Institute of Neurological Sciences, Glasgow, UK
- Correspondence to Dr Pankaj Kumar Agarwal, Princess Alexandra Eye Pavilion, Chalmers Street, Edinburgh EH3 9HA, UK;
- Accepted 15 April 2011
- Published Online First 20 May 2011
Introduction Oculopharyngeal muscular dystrophy (OPMD) presents with progressive ptosis, dysphagia and limb girdle weakness, and is caused by expansion of a trinucleotide tandem repeat within the gene encoding poly-(A) binding protein 2.
Aim To review the clinical manifestations of all genetically confirmed patients with OPMD in Scotland identified since 2002, and to estimate the delay between symptom onset and diagnosis.
Method Retrospective case note review.
Results The authors identified 17 patients. The commonest first symptom was ptosis at about the age of 60 years. Three to 20 years elapsed from the onset of ptosis to OPMD diagnosis. In 14 (82%) patients, dysphagia had developed by the time of diagnosis, and four (24%) out of these 14 patients with dysphagia had undergone a decade of investigation and treatment for pharyngeal problems. Thirteen patients (77%) also had symptoms of limb girdle muscle weakness. Every patient had a first-degree relative with ptosis.
Conclusions OPMD could have been diagnosed earlier in every patient in this case series. Greater awareness of OPMD among ophthalmologists, gastroenterologists and otolaryngologists may lead to earlier diagnosis, improved management and avoidance of unnecessary investigations.
Presented as a poster at the Annual Conference of The Royal College of Ophthalmologists, 2010.
Competing interests None.
Provenance and peer review Not commissioned; externally peer reviewed.