A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis.
نویسندگان
چکیده
منابع مشابه
A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis.
Of a family consisting of 54 members, 44 were examined. Twenty-one showed signs of a clinically non-progressive congenital lower motor neuron disorder restricted to the lower part of the body, which resulted in arthrogryposis in 15 cases. The mode of inheritance is autosomal dominant with very varied expression of the gene.
متن کاملAn extended family with a dominantly inherited speech disorder.
A three-generation family is described in which 16 members have a severe developmental verbal dyspraxia. Inheritance is autosomal dominant, with full penetrance. Intelligence and hearing are normal.
متن کاملCentral areolar choroidal dystrophy associated with dominantly inherited drusen.
AIM To describe the clinical and genetic aspects of a retinal dystrophy that combines central areolar choroidal dystrophy (CACD) and autosomal dominantly inherited drusen. METHODS The members of three unrelated families who demonstrated the rare combination of CACD and dominant drusen were clinically and angiographically investigated. In addition, DNA samples from the members of these familie...
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 کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1985
ISSN: 0022-3050
DOI: 10.1136/jnnp.48.10.1037