PROGRESSIVE DYSPHAGIA IN LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2B

被引：6

作者：

Walsh, Richard ^{[1
,6
]}

Hill, Fiona ^{[2
,6
]}

Breslin, Niall ^{[3
,6
]}

Connolly, Sean ^{[4
,6
]}

Brett, Francesca M. ^{[5
]}

Charlton, Richard ^{[8
]}

Barresi, Rita ^{[8
]}

McCabe, Dominick J. H. ^{[1
,6
,7
]}

机构：

[1] Adelaide & Meath Hosp, Dept Neurol, Dublin, Ireland

[2] Adelaide & Meath Hosp, Dept Speech & Language Therapy, Dublin, Ireland

[3] Adelaide & Meath Hosp, Dept Gastroenterol, Dublin, Ireland

[4] Adelaide & Meath Hosp, Dept Clin Neurophysiol, Dublin, Ireland

[5] Beaumont Hosp, Dept Neuropathol, Dublin 9, Ireland

[6] Natl Childrens Hosp, Trinity Coll, Dublin 24, Ireland

[7] UCL Inst Neurol, Dept Clin Neurosci, London, England

[8] NCG Diagnost & Advisory Serv Rare Neuromuscular D, Muscle Immunoanal Unit, Newcastle Upon Tyne, Tyne & Wear, England

来源：

MUSCLE & NERVE | 2011年 / 43卷 / 05期

关键词：

dysferlinopathy; dysphagia; limb-girdle muscular dystrophy 2B; myopathy; videofluoroscopy; DYSFERLINOPATHY; ESOPHAGUS; SCALE;

D O I：

10.1002/mus.22041

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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. Muscle Nerve 43: 761-764, 2011

引用

页码：761 / 764

页数：4

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