Progressive dysphagia in limb-girdle muscular dystrophy type 2B.
| dc.contributor.author | Walsh, Richard | |
| dc.contributor.author | Hill, Fiona | |
| dc.contributor.author | Breslin, Niall | |
| dc.contributor.author | Connolly, Sean | |
| dc.contributor.author | Brett, Francesca M | |
| dc.contributor.author | Charlton, Richard | |
| dc.contributor.author | Barresi, Rita | |
| dc.contributor.author | McCabe, Dominick J H | |
| dc.date.accessioned | 2012-02-01T10:48:57Z | |
| dc.date.available | 2012-02-01T10:48:57Z | |
| dc.date.issued | 2012-02-01T10:48:57Z | |
| dc.identifier.citation | Muscle Nerve. 2011 May;43(5):761-4. doi: 10.1002/mus.22041. | en_GB |
| dc.identifier.issn | 1097-4598 (Electronic) | en_GB |
| dc.identifier.issn | 0148-639X (Linking) | en_GB |
| dc.identifier.pmid | 21484829 | en_GB |
| dc.identifier.doi | 10.1002/mus.22041 | en_GB |
| dc.identifier.uri | http://hdl.handle.net/10147/207879 | |
| dc.description.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. | |
| dc.language.iso | eng | en_GB |
| dc.subject.mesh | Adult | en_GB |
| dc.subject.mesh | Deglutition Disorders/*diagnosis/etiology/genetics | en_GB |
| dc.subject.mesh | *Disease Progression | en_GB |
| dc.subject.mesh | Female | en_GB |
| dc.subject.mesh | Humans | en_GB |
| dc.subject.mesh | Muscular Dystrophies, Limb-Girdle/complications/diagnosis/genetics | en_GB |
| dc.title | Progressive dysphagia in limb-girdle muscular dystrophy type 2B. | en_GB |
| dc.contributor.department | Department of Neurology, The Adelaide and Meath Hospital, Dublin, and the, National Children's Hospital, Trinity College, Tallaght, Dublin 24, Ireland. | en_GB |
| dc.identifier.journal | Muscle & nerve | en_GB |
| dc.description.province | Leinster | |
| html.description.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. |