1153 ATYPICAL NERVE HISTOLOGY IN A CASE OF FAMILIAL DYSAUTONOMIA TYPE II
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چکیده
منابع مشابه
Spondylodiscitis in familial dysautonomia: a case report.
Familial dysautomonia (FD, or Riley-Day syndrome) is a rare but fatal autosomal recessive peripheral neuropathy caused by a point mutation in I-κ-B kinase complex associated protein (IKBCAP) gene. The disease, that affects primarily people of Ashkenazi Jewish origin, prejudices the development of primary sensory neurons determining depletion of autonomic and sensory neurons. Musculoskeletal pro...
متن کاملFamilial dysautonomia.
Familial dysautonomia is a rare syndrome of childhood affecting the nervous system. As the name suggests, dysfunction of the autonomic system is a prominent feature. It was first recognized as a separate entity by Riley, Day, Greeley and Langford (1949), the first large series being described by Riley (1952). So far, about 70 patients have been recorded. Though the fully developed syndrome is u...
متن کاملprevalence of atopic dermatitis in children with type 1 diabetes mellitus in southeastern of iran (kerman province): a case-control study
چکیده ندارد.
15 صفحه اولFamilial Dysautonomia (FD)
Familial dysautonomia (FD) is an autosomal recessive congenital neuropathy which results from poor development and progressive degeneration of the nervous system. The mutation responsible for FD was found at the 5�ss of intron 20 of the IKBKAP gene, encoding the I?B kinase complex-associated protein (IKAP...
متن کاملFamilial Dysautonomia (FD)
Familial dysautonomia (FD) is an autosomal recessive congenital neuropathy which results from poor development and progressive degeneration of the nervous system. The mutation responsible for FD was found at the 5�ss of intron 20 of the IKBKAP gene, encoding the I?B kinase complex-associated protein (IKAP...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1978
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197804001-01159