Oculopharyngeal muscular dystrophy (OPMD) is a rare hereditary myopathy with autosomal dominant transmission, caused by a GCN triplet expansion in the PABPN1 gene. The disease typically manifests in adulthood, after 40-50 years of age, with progressive palpebral ptosis, dysphagia and proximal limb muscle weakness. Its rarity and late onset often make diagnosis challenging, requiring careful clinical evaluation and a multidisciplinary approach.
This webinar will provide a comprehensive update on OPMD, combining clinical experience with data from the national AIM project collecting Italian multicenter case studies. The meeting will address the clinical classification of the disease and the challenges of differential diagnosis through the discussion of real clinical cases and the critical analysis of diagnostic approaches, from muscle biopsy to genetic confirmation. Preliminary data from the systematic collection of Italian cases will also be presented, with particular attention to genotype-phenotype correlations emerging from the analysis of patients enrolled in participating centres. The aim is to provide participants with practical tools for early disease recognition and an updated overview of the Italian epidemiological landscape.