Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three sibs are described suffering from hereditary non-progressive spinal muscular atrophy with non-progressive mental retardation. One of them had in addition signs of pyramidal tract involvement. Muscular weakness was more pronounced proximally than distally and the neck muscles were severely involved. Th.ey all had small skulls and several associated congenital malformations were observed including syndactyly of the left hand in 1 patient. The patients belong to a small inbred community in the Netherlands. Erythropoietic protoporphyria was also present in the family but segregated independently. This combination of "congenital" mental retardation with "congenital" non-progressive spinal muscular atrophy is believed to represent a new syndrome, caused by a rare recessive gene.
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PMID:An unusual form of spinal muscular atrophy with mental retardation occurring in an inbred population. 114 57

Myotonic dystrophy (Steinert's disease) is an uncommon familial autosomal dominant disease, characterized by progressive muscular atrophy and myotonia. Mental retardation, frontal baldness, cortical lenticular opacities and testicular atrophy are other prominent features of a disease that involves predominantly striated muscle. There is little information regarding this disease in the radiological literature. The present report introduces two additional findings involving the skull and the liver.
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PMID:Case report: selective occipital lobe hydrocephalus and agenesis of the left lobe of the liver in congenital myotonic dystrophy. 142 55

The effect on plasma fatty acid composition of 3-6 weeks feeding of standard diets supplemented with various omega 6 polyenoic fatty acids (18:2, 18:3, 20:3 or 20:4) was studied in two young brothers with multineuronal degeneration plus. These boys had mental retardation or maldevelopment, neurosensory hearing loss, retinitis pigmentosa, progressive muscular atrophy, hepatosplenomegaly and adrenal failure. The study objectives were to localize the site of metabolic block and to assess the safety and short-term clinical effect of dietary treatment. Our studies have shown that the low plasma levels of 20:4 omega 6 can be corrected by feeding ethyl arachidonate and that no adverse effects were experienced. A diet enriched in ethyl linoleate produced no obvious increases of 18:2 omega 6 metabolites, indicating that these patients do not have a linoleate deficiency in their omega 6 polyenoic fatty acid pathway. Lack of incorporation of 20:4 omega 6 and a retroconversion of 20:3 omega 6 to 18:2 omega 6 after a dihomo-gamma-linolenate-enriched diet suggest that a defect of delta 5 desaturase may be involved.
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PMID:Effects of polyunsaturated fatty acid diets on plasma lipids of patients with adrenomultineuronal degeneration, hepatosplenomegaly and fatty acid derangement. 666 79

Since the first reports of polyglutamine-binding protein 1 (PQBP1) mutations in Renpenning syndrome and related disorders, the spectrum of PQBP1-linked clinical manifestations has been outlined from rare published case reports. The phenotypic description is often obtained from medical archives, and therefore, heterogeneous. Moreover, some aspects such as brain imaging or cognitive and behavioral functioning are rarely described. In this study, 13 PQBP1-mutated French patients were subjected to a standardized clinical, cognitive and behavioral assessment. Physical measurements of their relatives were also collected. We report on a recognizable clinical and radiological phenotype. All patients presented with microcephaly, leanness and mild short stature, relative to familial measurements. Three new clinical features are described: upper back progressive muscular atrophy, metacarpophalangeal ankylosis of the thumb and velar dysfunction. The specific facial dysmorphic features included at least four of the following signs: long triangular face, large ridged nose, half-depilated eyebrows, dysplastic or protruding ears and rough slightly sparse hair. An over-aged appearance was noticed in elderly patients. Cortical gyrification was normal based on available magnetic brain imaging of six patients. PQBP1-linked microcephaly (or Renpenning syndrome) is an X-linked mental retardation syndrome, which has clinically recognizable features.
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PMID:The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males. 2095 Mar 97