منابع مشابه
Dominantly inherited ataxias in Portugal.
We analysed the clinical features of 82 patients with dominantly inherited ataxia in a cohort survey. All patients fulfilled the diagnostic criteria for Machado-Joseph disease. The mean age of onset of symptoms was 39.8 (+/- 12.5) years and the duration of the disease was 9.2 (+/- 6.7) years. Ataxia, peripheral neuropathy, and fasciculation scores correlated with age of onset and duration of di...
متن کاملUnderwriting Dominantly Inherited Diseases Underwriting Dominantly Inherited Diseases
Geneticists worry that their patients and the patients’ families will be subject to unfair discrimination by medical underwriters when the results of DNA tests show that the patients are predisposed to certain diseases. They point out that these individuals may be healthy at the time the test is carried out and that, without the test, they would be considered standard insurance risks. This appr...
متن کاملDominantly inherited hypertrophic neuropathy.
Clinical, electrophysiological, and histopathological studies of some members of a family with dominantly inherited hypertrophic neuropathy are presented. Twenty-five members were studied. Seventeen were abnormal on clinical examination. Their ages varied from 2 1/2 to 78 years. Age at onset in 14 of the 17 varied between 2 1/2 and 56 years. Pes cavus and palpable nerve thickening were present ...
متن کاملDominantly inherited optic atrophy.
LEBER'S disease, with its sudden onset in adolescence or early adult life, its rapid course, and puzzling mode of inheritance, has overshadowed other forms of inherited optic atrophy. The early literature contained many cases of "atypical" Leber's disease, but the continued emphasis on the established form, even in the monumental review by Bell (1931), hampered the emergence of other forms as s...
متن کاملDominantly inherited unilateral retinal dysplasia.
2 Eye Hospital. His left eye had been noted to be clinically small with an abnormal pupil and a white pupillary reflex. His general practitioner and the family were under the impression that there was a strong family history of retinoblastoma. An examination was performed under anaesthesia. The right eye was normal. The left eye was microphthalmic with a horizontal corneal diameter of 9-5 mm (r...
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ژورنال
عنوان ژورنال: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
سال: 1988
ISSN: 0317-1671,2057-0155
DOI: 10.1017/s0317167100028122