About Oculopharyngeal Muscular Dystrophy
Oculopharyngeal Muscular Dystrophy is a late-onset progressive myopathy caused by short GCN trinucleotide repeat expansions in the PABPN1 gene, leading to intranuclear accumulation of poly-alanine expanded PABPN1 protein. The hallmark features are progressive ptosis and dysphagia, followed by proximal limb weakness. Aspiration pneumonia secondary to dysphagia is a major cause of mortality.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Oculopharyngeal Muscular Dystrophy trials.
Genetic confirmation of GCG repeat expansion in PABPN1 (≥7 repeats on one allele for dominant, ≥7 on both for recessive) is required; standard sequencing may miss repeat expansions — ensure fragment analysis or repeat-primed PCR was used
Swallowing function assessment by videofluoroscopy or FEES (fibreoptic endoscopic evaluation) is a standard endpoint; obtaining a baseline swallowing study is strongly advisable
Age eligibility often starts at 40 or 45 — confirm upper age limits as trials may also cap enrolment for older patients with advanced disease
Patient Resources
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