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)

Myotonic dystrophy, best known in the French literature as Steinert disease, is a dominantly inherited disorder. When the gene is fully expressed, it shows a characteristic clinical picture. Myopathy and myotonia are the main features, but this is a systemic disease which may involve many other organs such as the central nervous system, eyes, bones, endocrine system, etc. With the complete picture, physical and behavioral features make the diagnosis easy, only to be confirmed by neurological and ophthalmologic examination and/or electromyography. This work reviews the main clinical signs seen in the classical form of the disease. We also want to stress the variability of that picture. Finally, we describe a new dysmorphic sign in myotonic dystrophy: large prominent cupped auricles. Although not recognized, prominauris has been illustrated in a number of publications on myotonic dystrophy. Three of our adult male patients presenting the congenital form of the disease at birth have been investigated to rule out concomitant fragile-X syndrome. Both syndromes include mental retardation and dysmorphic ears. Our patients show the usual testicular atrophy, whereas the fragile-X syndrome includes testicular hypertrophy. Cytogenetic studies were normal. Old clinical description and new physical signs may lack prestige in the perspective of recent molecular biological breakthroughs, but to recognize the disease and help patients live with it will always be the role of practitioners.
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PMID:[Phenotype variability in Steinert's myotonic dystrophy]. 292 15

This article reviews the effects of alcohol on male and female gonads and hormonal levels; it further discusses the use of ethanol during pregnancy and its teratogenic effect on the fetus. Impotence is a common result of acute alcoholism, and testicular atrophy, infertility, and decreased libido are associated with alcoholism 70-80% of the time. In addition, alcohol consumption produces significant spermatozoal morphological changes involving breakage of the sperm head, distention of the midsection, and curling of its tail. Seminiferous tubules are filled mostly with spermatids that undergo degeneration and result in aspermia. Acute ethanol intoxication is accompanied by decreased plasma testosterone levels and a surge of luteinizing hormone. Ethanol appears to have a dual effect: locally on the gonads and centrally on the hypothalamus-pituitary axis, causing an adverse effect on spermatogenesis. Less is known about the effects of alcohol on the female reproductive function; however, inhibition of ovulation and a significant reduction of plasma estradiol and progesterone levels has been noted in rats following ethanol administration. Alcohol consumption during pregnancy is the most frequent known teratogenic cause of mental retardation. Infants most severely affected by maternal alcohol abuse during gestation possess a number of dysmorphic anomalies termed fetal alcohol syndrome. The abnormalities most typically associated with alcohol teratogenicity can be grouped into 4 categories: growth deficiencies, central nervous system dysfunctions, craniofacial abnormalities, and other major and minor malformations. The effects of maternal alcohol consumption on the fetus are independent of maternal nutritional status and smoking history. Alcohol abuse during pregnancy occurs in 2-13% of US women, and these women have a 50-70% chance of delivering an infant with a serious abnormality.
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PMID:Alcohol and reproductive function: a review. 354 7

A thirty-three-year-old male with Lowe's syndrome had cataract; nystagmus, buphthalmos, prominent frontal bossing, growth and mental retardation, aminoaciduria, proteinuria, rickets, areflexia, genu valgum, piercing cry and head-banging being among the presenting features. The rickety changes improved over a period of years with the administration of vitamin D2. Pathological changes include: (1) tubular damage in the kidneys and hypertrophies of Bowman's capsules; (2) small brain with ventricular dilatation with thickened meninges, small corpus callosum, small size of pyramidal tracts and medial leminisci, neurofibrillary tangles in the pyramidal cells of the Ammon's horn and frontal lobe; (3) eye changes of buphthalmos, congenital cataracts and thickening of Descemet's membrane; (4) testicular atrophy--both testes showing peritubular fibrosis with an increase of fibrous tissue in the interstitial tissue. Azoospermia was present linked with poor development of spermatogonia and spermatocytes. The lumina of the seminiferous tubules were filled with foamy exudate.
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PMID:Clinicopathological studies of oculo cerebrorenal syndrome of Lowe, Terrey and MacLachlan. 738 30

A large Swedish family with members affected by progressive external ophthalmoplegia with hypogonadism were followed-up and reviewed. Hypogonadism included delayed sexual maturation, primary amenorrhea, early menopause, and testicular atrophy. Cataracts, cerebellar ataxia, neuropathy, hypoacusia, pes cavus, tremor, parkinsonism, depression, and mental retardation were other features observed in this family. Muscle biopsy samples of advanced cases showed ragged-red fibers, focal cytochrome c oxidase deficiency, and multiple mtDNA deletions by Southern blot analysis. An autosomal dominant mode of inheritance was evident with anticipation in successive generations. Linkage analysis excluded the chromosome 10q23.3-q24.3 region reported as being linked to the disease in a Finnish family with autosomal dominant progressive external ophthalmoplegia. We report for the first time clinical evidence for anticipation in a family with autosomal dominant progressive external ophthalmoplegia. We hypothesize that the nuclear gene causing this enigmatic disorder may be directly influenced by an expansion of an unstable DNA sequence and that the resulting phenotype is caused by a concerted action with multiple deletions of mtDNA.
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PMID:Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism. 894 Dec 70