Oculopharyngeal Muscular Dystrophy

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset, dominantly inherited, slowly progressing disease, carried by a limited expansion of the triplet of GCG nucleotides in the PABP2 gene on chromosome 14q11 [43]. Although OPMD has a world-wide distribution, its prevalence is highest in patients of French-Canadian origin [129, 155]. The onset of disease occurs in middle life, most often presenting with ptosis and a slight degree of ophthalmoplegia, followed later by dysphagia and often proximal limb weakness. The disease progresses slowly, but the dysphagia may be severe and has been reported to be a cause of death by starvation in several cases [316]. Muscle biopsy reveals various changes in muscle fibres, such as atrophy and regeneration with an increased number of myocyte nuclei and their centripetal orientation. Some findings, such as intracytoplas-mic rimmed vacuoles, found by light microscopy, and intranuclear filament inclusions, seen by electron microscopy, are its pathological hallmarks [316]. Hill and co-workers provided confirmation that the detection of expanded GCG-repeated lengths in the PABP2 gene is a reliable diagnostic test for OPMD in the English population [155]. However, their results were not in accordance with other molecular studies [43]. Simple procedures such as blepharoplasty and cricopharyngeal myotomy considerably improve the quality of life of these patients [129].

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