• Progressive dysphagia in limb-girdle muscular dystrophy type 2B.

      Walsh, Richard; Hill, Fiona; Breslin, Niall; Connolly, Sean; Brett, Francesca M; Charlton, Richard; Barresi, Rita; McCabe, Dominick J H; Department of Neurology, The Adelaide and Meath Hospital, Dublin, and the, National Children's Hospital, Trinity College, Tallaght, Dublin 24, Ireland. (2012-02-01)
      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.