Progressive dysphagia in limb-girdle muscular dystrophy type 2B
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Updated: Jun 2, 2026

Minimally Invasive Murine Laryngoscopy for Close-Up Imaging of Laryngeal Motion During Breathing and Swallowing
Published on: December 1, 2023
Richard Walsh1, Fiona Hill, Niall Breslin
1Department of Neurology, The Adelaide and Meath Hospital, Dublin, and the National Children's Hospital, Trinity College, Tallaght, Dublin 24, Ireland.
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.
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