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:C0027066 (
myoclonus
)
4,275
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Stiff-person syndrome (SPS) is an autoimmune neuronitis with progressive
myoclonus
and stiffness. It is a rare but treatable disorder with few case reports in children. SPS is due to autoantibodies against the enzyme glutamic acid decarboxylase which is present in neuronal and nonneuronal tissues. This is the case report of an 8-year-old boy with clinical and investigational features suggestive of SPS with associated
myoglobin
-induced renal failure, who completely recovered with treatment.
...
PMID:Pediatric stiff-person syndrome with renal failure. 2693 66