نتایج جستجو برای: hereditary sensory and motor neuropathy
تعداد نتایج: 16878445 فیلتر نتایج به سال:
there are few reports about congenital indifference to pain or hereditary and sensory autonomic neuropathy (hsan). several investigations for pathophysiology of this syndrome have been performed and different classifications about it. in this report we present a case of hsan type ii with general absence of pain and self amputations and leprosy–like damage of extremities which was suspected to b...
OBJECTIVE To study the frequency and distribution of mutations in SPG3A in a large cohort of patients with hereditary spastic paraplegia. DESIGN We screened a large cohort of 182 families and isolated cases with pure or complex hereditary spastic paraplegia phenotypes, which were negative for mutations in SPG4. RESULTS In 12 probands (6.6%), we identified 12 different SPG3A mutations (11 mi...
Hereditary sensory and autonomic neuropathy type II (HSANII) is an early-onset autosomal recessive disorder characterized by loss of perception to pain, touch, and heat due to a loss of peripheral sensory nerves. Mutations in hereditary sensory neuropathy type II (HSN2), a single-exon ORF originally identified in affected families in Quebec and Newfoundland, Canada, were found to cause HSANII. ...
Hereditary sensory neuropathy (HSN) is a rare disorder of peripheral sensory neurons. It was also known as hereditary sensory and autonomic neuropathy. It is characterised by a chronic clinical evolution with ulcerations, loss of sensation and destruction of terminal digits of feet and hands. It usually begins in childhood. Symptoms start with inflamed fingers or toes especially around the nail...
A Kashmiri family with 3 members affected by a congenital sensory and autonomic neuropathy and corneal opacification is described. The 3 affected cases were offspring of consanguinous marriages in two generations; autosomal recessive inheritance is therefore probable. Pain and temperature sensation was lost in the limbs with a resulting mutilating acropathy. Sudomotor function was also impaired...
hereditary motor sensory neuropathies (hsmn/cmt) is the most common form of inherited polyneuropathy and is typically associated with an insidious onset of muscle wasting, distal predominant motor and sensory loss. hsmn/cmt is usually presenting with genetic heterogeneity, leading to diagnostic considerations that are dramatically developing for this disease. clinical presentations, gene mutati...
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