نتایج جستجو برای: hereditary sensory autonomic neuropathy
تعداد نتایج: 236104 فیلتر نتایج به سال:
Leprosy is a major cause of peripheral neuropathy in developing countries, affecting sensory, motor, and autonomic nerve function. Neuropathy complications can include sensory loss muscle weakness. Impaired function often the first symptom encountered leprosy neuropathy. Early detection treatment are important to prevent disability.
Case presentation: A 17-year-old girl presented recurrent skin injuries on both feet with onset at 2 years old. She had labile temperature unexplained hyperthermia episodes. Parents were consanguineous and two healthy younger brothers. Past medical history included chronic osteomyelitis of the right foot after cellulitis. On examination, there are acral mutilations hands dry skin; reduced bilat...
C oexistence of neuropathy and chronic cough seems to be rare, but a series of recent reports have shown that it certainly occurs more frequently that we would expect by a chance association. As is the rule in neurogenetics, this coexistence seems to be associated to phenotypic and genotypic heterogeneity. At least 2 reports described the existence of cough and a sensory and motor neuropathy, e...
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 neuropathies are common neurological conditions characterized by progressive loss of motor and/or sensory function. There are no effective treatments. Among the many causes of hereditary neuropathies are dominant mutations in serine palmitoyltransferase, long chain base subunit 1 (SPTLC1), which cause hereditary sensory and autonomic neuropathy type 1 (HSAN1). By incorporating L-alan...
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