G.P.7: Longitudinal studies of dysphagia in oculopharyngeal muscular dystrophies

Abstract

To assess the evolution of dysphagia in patients with oculopharyngeal muscular dystrophy (OPMD). OPMD is an autosomal dominant form of late-onset muscular dystrophy. Ptosis and dysphagia are the most common presenting symptoms. In some reports, patients with OPMD who are homozygotes for two (GCN) expansions in the PABPN1 encoding gene have cognitive impairment and reduced life span. But about dysphagia, few things are known. For about 5years, we followed one patient with (GCN)12 homozygotes and another patient with heterozygotes patient, (GCN)17. In addition to clinical evaluation, psychological tests, brain imaging studies and examination by videofluoroscopy (VF) were performed. OPMD started about age 50 years, with bilateral ptosis and dysphagia; external ophthalmoparesis and dysphonia followed within a few years, as well as weakness in four limb muscles. Maximum tongue pressure were lower than in other reports, 9.7 and 10.6kPa. In VF, laryngeal penetration by water and large amounts of pharyngeal residue by solids were seen. Both patients had recurrent aspirations and lost weight. Second patient required feeding gastrostomies. Both patients showed mild cognitive decline, no depression nor psychotic episodes. Dysphagia in oculopharyngeal muscular dystrophy may also progresses faster in homozygote compared with heterozygote patients. It is important to be careful for dysphagia, as it may lead to reduce life expectancy.