Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030552 (paresis)
 5,831 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A syndrome of spastic paresis, mental retardation and glaucoma has been described only once previously (Heijbel & Jagell 1981). We describe three brothers, products of a marriage between first cousins once-removed, who appear to have the same syndrome. The brothers are not dysmorphic but they have slowly progressive spastic paresis, moderate mental retardation and glaucoma with secondary cataracts. Documentation of a second consanguineous kindred with this triad of features supports the view that this is a distinct entity with an autosomal recessive mode of inheritance.
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PMID:Spastic paresis, glaucoma and mental retardation--a probable autosomal recessive syndrome? 380 60

The case of an about 22-year-old patient with AARSKOG-syndrome is reported whose scoliosis caused a radicular impairment with resulting severe paresis of the right fibular nerve. The syndrome was also associated with moderate mental retardation, epilepsy, premature craniosynostosis and tardive dyskinesias after neuroleptic therapy because of disorders of behaviour. The risks of idiopathic scoliosis in patients with dysmorphia-retardation syndromes should be taken into consideration and such children should be supervised by an orthopaedist.
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PMID:[Aarskog syndrome in association with mental and psychological retardation, grand mal epilepsy and tardive dyskinesia and apparent radicular paralysis of the fibular nerve in torsion scoliosis]. 820 22