Brett, Francesca M
McCabe, Dominick J H
AffiliationDepartment of Neurology, The Adelaide and Meath Hospital, Dublin, and the, National Children's Hospital, Trinity College, Tallaght, Dublin 24, Ireland.
Muscular Dystrophies, Limb-Girdle/complications/diagnosis/genetics
MetadataShow full item record
CitationMuscle Nerve. 2011 May;43(5):761-4. doi: 10.1002/mus.22041.
JournalMuscle & nerve
AbstractDysphagia 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.