Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
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.
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PMID:Pediatric stiff-person syndrome with renal failure. 2693 66