title: Progressive dysphagia in limb-girdle muscular dystrophy type 2B.
abstract: Dysphagia has not been reported in genetically confirmed limb-girdle muscular dystrophy type 2B (LGMD2B). A 40-year-old woman reported exercise-induced calf pain at age 34, followed by progressive lower and upper limb weakness. At age 38, progressive dysphagia for solids, and subsequently liquids, ensued. Endoscopic and videofluoroscopic-radiological findings indicated a myopathic swallowing disorder. Molecular genetic analysis confirmed two dysferlin gene mutations consistent with a compound heterozygote state. Progressive dysphagia should be considered as part of the expanding dysferlinopathy phenotype.
authors.affiliation: Department of Neurology, The Adelaide and Meath Hospital, Dublin, and the National Children's Hospital, Trinity College, Tallaght, Dublin 24, Ireland.
authors.forename: Richard
authors.initials: R
authors.lastname: Walsh
authors.forename: Fiona
authors.initials: F
authors.lastname: Hill
authors.forename: Niall
authors.initials: N
authors.lastname: Breslin
authors.forename: Sean
authors.initials: S
authors.lastname: Connolly
authors.forename: Francesca M
authors.initials: FM
authors.lastname: Brett
authors.forename: Richard
authors.initials: R
authors.lastname: Charlton
authors.forename: Rita
authors.initials: R
authors.lastname: Barresi
authors.forename: Dominick J H
authors.initials: DJ
authors.lastname: McCabe
mesh_terms: D000328:Adult; D003680:Deglutition Disorders / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D018450:Disease Progression; D005260:Female; D006801:Humans; D049288:Muscular Dystrophies, Limb-Girdle / Q000150:complications / Q000175:diagnosis / Q000235:genetics