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: UNIPROT:P01889 (
ankylosing spondylitis
)
5,717
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
In this report we present three patients who had complaints primarily related to joints and flexibility. Two had no specific diagnosis and one was thought to have
ankylosing spondylitis
. Extensive evaluation revealed
Emery-Dreifuss muscular dystrophy
(
EDMD
) in all.
EDMD
is a muscular dystrophy where joint contractures and spinal limitation occur before any overt muscle weakness, and the syndrome may be combined with serious cardiac pathology. We wish to call the attention of professionals involved in rheumatology and physical medicine to the existence of this syndrome, which may only present with joint contractures and spinal limitation but which may end with fatal cardiac problems if not diagnosed in time.
...
PMID:Emery-Dreifuss muscular dystrophy in the evaluation of decreased spinal mobility and joint contractures. 1467 28
