Sensorineural deafness inherited as a tissue specific mitochondrial disorder.
نویسندگان
چکیده
منابع مشابه
Sensorineural deafness inherited as a tissue specific mitochondrial disorder.
We present here a large Israeli-Arab kindred with hereditary deafness. In this family 55 deaf subjects (29M, 26F), who are otherwise healthy, have been identified and traced back five generations to one common female ancestor. The deafness is progressive in nature, usually presenting in infancy and childhood. Audiometry on six deaf and seven unaffected subjects was consistent with severe to pro...
متن کاملMalignant thymoma presenting as sensorineural deafness.
autoimmune disorders, most notably myasthenia gravis (MG) which is seen in up to 40% of cases.1,2 There are also a number of other less common autoimmune disorders associated with thymoma, including hyperexcitability syndromes,3 myositis,1 encephalitis,4 autonomic dysfunction,5 and lupus.6 In 2004 Vernino and Lennon7 reported autoimmune sensorineural hearing loss (SNHL) in two patients from the...
متن کاملHypoparathyroidism, sensorineural deafness, and renal disease
Key words Disease name and synonyms Definition/diagnostic criteria Epidemiology Clinical description Etiology Diagnostic methods Differential diagnosis Genetic counseling Antenatal diagnosis Management including treatment Prognosis Unresolved questions References Abstract The syndrome of Hypoparathyroidism, sensorineural deafness and renal disease (HDR syndrome) is an inherited condition. Patie...
متن کاملScreening for sensorineural deafness by health visitors
Screening for hearing loss in the first year of life, using the distraction test, remains the responsibility of health visitors in most health districts in the United Kingdom. We have evaluated the screening procedure used routinely in one health region in a population of infants at increased risk of sensorineural deafness. They were infants who weighed less than 2000 g at birth or infants who ...
متن کاملA Novel Unstable Mutation in Mitochondrial DNA Responsible for Maternally Inherited Diabetes and Deafness
OBJECTIVE The m.3243A>G mutation in mitochondrial DNA (mtDNA) is responsible for maternally inherited diabetes and deafness (MIDD). Other mtDNA mutations are extremely rare. RESEARCH DESIGN AND METHODS We studied a patient presenting with diabetes and deafness who does not carry the m.3243A>G mutation. RESULTS We identified a deficiency of respiratory chain complex I in the patient's fibrob...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1992
ISSN: 1468-6244
DOI: 10.1136/jmg.29.2.86