نتایج جستجو برای: congenital insensitivity to pain
تعداد نتایج: 10730988 فیلتر نتایج به سال:
how to cite this article: karimi m, fallah r. a case report of congenital insensitivity to pain and anhidrosis (cipa). iran j child neurol 2012; 6(3): 45-48. congenital insensitivity to pain and anhidrosis (cipa) or hereditary sensoryautonomic neuropathies type iv (hsan type iv) is an extremely rare autosomalrecessive disorder initially described by swanson in 1963.we report a 2.5-year-old bo...
Congenital insensitivity to pain with anhidrosis is a rare disease of the nervous system which causes one to lose his/her feeling of pain. The disease is subtype four of hereditary sensory and autonomic neuropathy (HSAN IV) that results from NTRK1 gene defect. Direct sequencing was performed to screen NTRK1 for mutations. The result revealed a homozygous deletion of adenine on intron 14 that ma...
how to cite this article: azadvari m, emami razavi sz, kazemi sh. hereditary sensory and autonomic neuropathy type iv in 9 year old boy: a case report. iran j child neurol. spring 2016; 10(2):83-85. abstract objective the hereditary sensory and autonomic neuropathy (hsan) is a rare group of neuropathies that affects the sensory and autonomic nervous system. the patients do not have the ability ...
Congenital insensitivity to pain is a rare hereditary neuropathy. We present patients from a large family in Norrbotten, Sweden with a mutation in the nerve growth factor beta gene (NGFbeta). Using a model of recessive inheritance, we identified an 8.3-Mb region on chromosome 1p11.2-p13.2 shared by the affected individuals in the family. Analysis of candidate genes in the disease-critical regio...
Congenital Insensitivity to pain with anhydrosis (CIPA) is a rare inherited disease. It is classified as hereditary sensory and autonomic neuropathy type IV. Pain insensitivity and autonomic deficits are present, but touch and pressure sensitivity are unimpaired. Mental retardation is usually present. We report a family case of a 5 years old girl and 2 years old boy with congenital insensitivit...
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