Hereditary sensory and autonomic neuropathy type 8
Synonyms: HSAN8 | Hereditary sensory and autonomic neuropathy type VIII
A rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by congenital impaired sensation of acute or inflammatory pain in combination with an inability to identify noxious heat or cold leading to numerous painless mutilating lesions and injuries. Further manifestations are absence of corneal reflexes resulting in corneal scarring reduced sweating and tearing and recurrent skin infections. Large-fiber sensory modalities such as light touch vibration and proprioception are normal.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Hereditary sensory and autonomic neuropathy type 8?
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