Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A family is reported with five generations showing hereditary chorea. In the youngest generation, two members had so severe choreic hyperkinesis that gait was impaired in one of them and totally impeded in the other; they also had associated mental retardation, which was not present in other members with variable degrees of hyperkinesis. There was no therapeutic response to several drugs. The literature regarding genetical, clinical and therapeutic aspects of this condition is reviewed, and it is concluded that the most adequate denomination for the disease is familial nonprogressive chorea rather that the accepted one of benign familiar chorea.
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PMID:[Benign familial chorea. A not so benign entity]. 253 15