Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0011168 (
dysphagia
)
15,644
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:Progressive dysphagia in limb-girdle muscular dystrophy type 2B. 2148 29
