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

Hdl Handle:
http://hdl.handle.net/10147/207879
Title:
Progressive dysphagia in limb-girdle muscular dystrophy type 2B.
Authors:
Walsh, Richard; Hill, 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.
Citation:
Muscle Nerve. 2011 May;43(5):761-4. doi: 10.1002/mus.22041.
Journal:
Muscle & nerve
Issue Date:
1-Feb-2012
URI:
http://hdl.handle.net/10147/207879
DOI:
10.1002/mus.22041
PubMed ID:
21484829
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.
Language:
eng
MeSH:
Adult; Deglutition Disorders/*diagnosis/etiology/genetics; *Disease Progression; Female; Humans; Muscular Dystrophies, Limb-Girdle/complications/diagnosis/genetics
ISSN:
1097-4598 (Electronic); 0148-639X (Linking)

Full metadata record

DC FieldValue Language
dc.contributor.authorWalsh, Richarden_GB
dc.contributor.authorHill, Fionaen_GB
dc.contributor.authorBreslin, Niallen_GB
dc.contributor.authorConnolly, Seanen_GB
dc.contributor.authorBrett, Francesca Men_GB
dc.contributor.authorCharlton, Richarden_GB
dc.contributor.authorBarresi, Ritaen_GB
dc.contributor.authorMcCabe, Dominick J Hen_GB
dc.date.accessioned2012-02-01T10:48:57Z-
dc.date.available2012-02-01T10:48:57Z-
dc.date.issued2012-02-01T10:48:57Z-
dc.identifier.citationMuscle Nerve. 2011 May;43(5):761-4. doi: 10.1002/mus.22041.en_GB
dc.identifier.issn1097-4598 (Electronic)en_GB
dc.identifier.issn0148-639X (Linking)en_GB
dc.identifier.pmid21484829en_GB
dc.identifier.doi10.1002/mus.22041en_GB
dc.identifier.urihttp://hdl.handle.net/10147/207879-
dc.description.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.en_GB
dc.language.isoengen_GB
dc.subject.meshAdulten_GB
dc.subject.meshDeglutition Disorders/*diagnosis/etiology/geneticsen_GB
dc.subject.mesh*Disease Progressionen_GB
dc.subject.meshFemaleen_GB
dc.subject.meshHumansen_GB
dc.subject.meshMuscular Dystrophies, Limb-Girdle/complications/diagnosis/geneticsen_GB
dc.titleProgressive dysphagia in limb-girdle muscular dystrophy type 2B.en_GB
dc.contributor.departmentDepartment of Neurology, The Adelaide and Meath Hospital, Dublin, and the, National Children's Hospital, Trinity College, Tallaght, Dublin 24, Ireland.en_GB
dc.identifier.journalMuscle & nerveen_GB
dc.description.provinceLeinster-

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