title: Permanent dysphagia in familial amyloid polyneuropathy (ATTRVal30Met).
abstract: Gastrointestinal symptoms are frequent in familial amyloid polyneuropathy, mainly resulting from autonomic nervous system involvement. Dysphagia is one of the possible symptoms, although rarely severe or sudden. We describe a case of a sudden onset and severe dysphagia, a rare form of presentation, in a patient whose polyneuropathy was still beeing investigated and turned out to be ATTRVal30Met-polyneuropathy.
authors.affiliation: Neurology department, Hospital de Santo António, Centro Hospitalar do Porto, Portugal. cecilia.mmt@gmail.com
authors.forename: Cecília
authors.initials: C
authors.lastname: Monteiro
authors.forename: Marina
authors.initials: M
authors.lastname: Magalhães
authors.forename: Carlos
authors.initials: C
authors.lastname: Correia
authors.forename: Ricardo
authors.initials: R
authors.lastname: Taipa
mesh_terms: D000682:Amyloid / Q000235:genetics; D028227:Amyloid Neuropathies, Familial / Q000175:diagnosis* / Q000235:genetics; D003680:Deglutition Disorders / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D011228:Prealbumin / Q000235:genetics
chemical_list: D000682:Amyloid; D011228:Prealbumin; C076571:transthyretin-related amyloid fibril protein, human