RT Journal Article
SR Electronic
T1 Delayed diagnosis of oculopharyngeal muscular dystrophy in Scotland
JF British Journal of Ophthalmology
JO Br J Ophthalmol
FD BMJ Publishing Group Ltd.
SP 281
OP 283
DO 10.1136/bjo.2010.200378
VO 96
IS 2
A1 Agarwal, Pankaj Kumar
A1 Mansfield, David C
A1 Mechan, Dorothy
A1 Al-Shahi Salman, Rustam
A1 Davenport, Richard J
A1 Connor, Myles
A1 Metcalfe, Richard
A1 Petty, Richard
YR 2012
UL http://bjo.bmj.com/content/96/2/281.abstract
AB 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.