title: Hereditary ptosis of late onset: early observations on oculopharyngeal muscular dystrophy in Quebec by Roma Amyot.
abstract: In 1948, Roma Amyot, a well-known French-Canadian neurologist, observed in ten families a late onset syndrome consisting of hereditary ptosis which was sometimes associated with dysphagia but rarely with limb weakness. At that time, Taylor's original work dating back to 1915 was still unknown to him. Nonetheless, these reports constitute the two earliest publications about this syndrome prevalent in the French-Canadian population. Amyot recognized the myopathic nature of this disease which was later called oculopharyngeal muscular dystrophy (OPMD) by Victor et al.
authors.affiliation: Université de Montréal et Service de Neurologie, Hôpital Notre-Dame, QC, Canada.
authors.forename: P
authors.initials: P
authors.lastname: Duquette
authors.forename: N
authors.initials: N
authors.lastname: Giard
mesh_terms: D017668:Age of Onset; D001763:Blepharoptosis / Q000209:etiology / Q000235:genetics*; D005192:Family Health; D049673:History, 20th Century; D006801:Humans; D009136:Muscular Dystrophies / Q000150:complications / Q000235:genetics / Q000266:history*; D009801:Oculomotor Muscles; D010609:Pharyngeal Muscles; D011792:Quebec