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 277,896 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Report of a further case with coexisting diabetes mellitus, diabetes insipidus, optic atrophy und neurogenic deafness. It was not possible to find a cause for these symptoms. The cases reported in the literature are brought together and discussed.
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PMID:[The occurrence of diabetes mellitus, diabetes insipidus, optic atrophy and neurogenic deafness in one patient (author's transl)]. 5 Oct 70

Two Iraqi sisters and a female cousin developed diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA), and deafness (D), (the 'DIDMOAD' syndrome) before the age of 12 years. One girl exhibited all the features of this disease complex only 3 months after an unusually late onset of recognizable symptoms at 11 years 9 months. Another girl died suddenly and unexpectedly. This family study illustrates the recessive inheritance pattern of the syndrome.
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PMID:Diabetes insipidus, diabetes mellitus, optic atrophy and deafness. A clinical and genetic study. 48 81

The DIDMOAD syndrome is a combination of diabetes mellitus, diabetes insipidus, optic atrophy and labyrinthine deafness. The inheritance is autosomalrecessive. Diagnostic and therapeutic possibilities are discussed on the basis of a further case of this pathogenetically not yet clarified disease pattern. Early detection of this syndrome in juvenile diabetics is important for long-term prognosis and genetic family advice.
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PMID:[Diabetes insipidus, diabetes mellitus, optic atrophy and labyrinthine deafness: the DIDMOAD-syndrome (author's transl)]. 57 89

By reporting a further case attention is drawn to the autosomal recessive inherited DIDMOAD-syndrome. While diabetes mellitus and optic atrophy are easy to recognize, one often has specifically to look for deafness, diabetes insipidus and the frequently associated dilatation of the urinary tract. Awareness of this condition is important for genetic counselling and vocational guidance, and allows to avoid invasive neuroradiological investigations.
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PMID:[Diabetes insipidus, diabetes mellitus, optic nerve atrophy, and deafness--an autosomal recessive syndrome (didmoad-syndrome) (author's transl)]. 65 95

We report the cases of two siblings who died at age 21 and 15 years respectively. Both had optic atrophy, pitressinsensitive diabetes insipidus, and insulin-dependent diabetes mellitus, with onset occurring in early childhood. Although there are now 21 patients from 15 families with this syndrome, this is the first time that necropsy findings have become available. They include the expected atrophy of hypothalamic nuclei and degeneration of the optic nerves, chiasm and tract, as well as a totally unexpected degeneration of the pons and cerebellum.
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PMID:Simultaneous occurrence of diabetes mellitus, diabetes insipidus, and optic atrophy in a brother and sister. 93 Aug 89

Three children with diabetes insipidus, diabetes mellitus, optic atrophy, and high-tone deafness were shown to lack vasopressin, indicative of degeneration of the cells of the hypothalamic supraoptic nuclei. The syndrome being due to a single gene defect, inherited as an autosomal recessive, is therefore likely to be the result of an inborn error of metabolism with variable periods of latency in those affected.
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PMID:Diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. 3 cases of 'DIDMOAD' syndrome. 93 28

A few rare syndromes have been delineated in which diabetes mellitus is inherited in association with other conditions. This paper describes five patients, including four siblings in one family, who have diabetes insipidus, diabetes mellitus, optic atrophy and deafness (the DIDMOAD syndrome). The parents of both families are normal but are first cousins. All the patients have insulin-dependent diabetes mellitus with a typical juvenile-onset. The onset of diabetes insipidus was insidious and the symptoms could easily have been ascribed to poor control of diabetes mellitus. The importance of diagnosing diabetes insipidus is that all these patients had dilatation of the urinary tract varying from mild hydroureter to severe hydronephrosis and this improved with treatment of the diabetes insipidus. It is suggested that patients with diabetes mellitus and optic atrophy should have regular screening tests for diabetes insipidus since it is likely that they represent cases of the full syndrome with incomplete clinical expression. The occurrence of this rare syndrome in four siblings of unaffected parents indicates that the syndrome is due to a recessive gene, but the pathogenesis is unknown.
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PMID:Recessive inheritance of diabetes: the syndrome of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. 94 48

Four patients with diabetes mellitus, optic atrophy, and high-frequency neurosensory hearing loss, two of whom also had diabetes insipidus, are described. The frequency of this syndrome among patients with juvenile diabetes appears to be between 1/148 and 1/175. Because of the progressive nature of the disabilities and the autosomal recessive mode of inheritance, careful monitoring of all juvenile diabetic patients for other signs of the syndrome is warranted.
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PMID:Juvenile diabetes mellitus, optic atrophy, sensory nerve deafness, and diabetes insipidus--a syndrome. 95 98

This study consists of two parts: 1. A detailed genetic analysis of 35 sibships in which 58 individuals were affected with Friedreich's ataxia; and 2. Clinical and laboratory examinations of parents and siblings, in an attempt at carrier detection and diagnosis of the pre-clinical state. The increased parental consanguinity, the lack of affected individuals in other generations, and the lack of significance of extrinsic etiological variables, all suggested an autosomal recessive mode of inheritance, and this was confirmed by formal genetic analyses, employing several different methods. Associated abnormalities in our series of 58 patients included cardiomyopathy (51.7%), diabetes mellitus (19.0%), optic atrophy (5.2%), nerve deafness (5.2%) and congenital malformations (6.9%). The incidence of diabetes mellitus, congenital malformations, and epilepsy and/or febrile convulsions was elevated in first degree relatives of patients with Friedreich's ataxia.
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PMID:Genetic and family studies in Friedreich's ataxia. 100 Apr 12

Congenital or infantile autosomal recessive optic atrophy is rare. The autosomal recessive syndrome of optic atrophy associated with diabetes is less rare. Dominant juvenile optic atrophy occurs frequently. Behr's heredo-familial optic atrophy, with its neurological mainfestations and its recessive autosomal inheritance, is rare. Sex-linked optic atrophy is exceptional. Leber's optic neuritis occurs frequently. Its heredity is apparently sex-linked, but no classical mode of transmission can be applied. Cytoplasmic heredity is the most probable.
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PMID:[Hereditary optic atrophies]. 100 72


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