Authors
Walsh, RichardHill, Fiona
Breslin, Niall
Connolly, Sean
Brett, Francesca M
Charlton, Richard
Barresi, Rita
McCabe, Dominick J H
Affiliation
Department of Neurology, The Adelaide and Meath Hospital, Dublin, and the, National Children's Hospital, Trinity College, Tallaght, Dublin 24, Ireland.Issue Date
2012-02-01T10:48:57ZMeSH
AdultDeglutition Disorders/*diagnosis/etiology/genetics
*Disease Progression
Female
Humans
Muscular Dystrophies, Limb-Girdle/complications/diagnosis/genetics
Metadata
Show full item recordCitation
Muscle Nerve. 2011 May;43(5):761-4. doi: 10.1002/mus.22041.Journal
Muscle & nerveDOI
10.1002/mus.22041PubMed ID
21484829Abstract
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.Language
engISSN
1097-4598 (Electronic)0148-639X (Linking)
ae974a485f413a2113503eed53cd6c53
10.1002/mus.22041
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