Hereditary sensory and autonomic neuropathy

King, R. H. M.

doi:10.1002/9781118618424.ch14

Peripheral Nerve Disorders 2014

DOI: 10.1002/9781118618424.ch14

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Hereditary sensory and autonomic neuropathy

R. H. M. King

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Cited by 2 publications

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“…It presents with usual onset in infancy—widespread sensory loss, mutilations in the hands and feet, acro-osteolysis, and mild or minimal autonomic dysfunction. [ 1 2 ] HSAN II is distinguished by normal mental health from HSAN III and IV. [ 2 ]…”

mentioning

confidence: 99%

Keratoconus associated with hereditary sensory and autonomic neuropathy II

Shah

Singh²,

Purohit³

et al. 2022

Indian Journal of Ophthalmology

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mentioning

confidence: 99%

Keratoconus associated with hereditary sensory and autonomic neuropathy II

Shah

Singh²,

Purohit³

et al. 2022

Indian Journal of Ophthalmology

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Hereditary Sensory and Autonomic Neuropathy Type Viii

Pawar¹,

Tipparaju²

2016

IJCR

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Hereditary sensory and autonomic neuropathy type VIII (HSAN 8 or HSAN VIII) is a rare genetic disorder that usually begins in infancy and is characterized by an inability to feel pain and inability to sweat (anhidrosis). The sensory loss in individuals with HSAN VIII is due to abnormal functioning of the sensory nerves that control responses to pain and temperature. Anhidrosis can cause recurrent episodes of fever and high body temperature. An inability to feel pain can lead to unintentional self-mutilation, repeated fractures, and joint damage. Affected individuals and especially children or infants may be unaware of injury delaying treatment. HSAN VIII is caused by mutations in the PRDM12 gene which is essential for human pain perception.

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Hereditary sensory and autonomic neuropathy

Cited by 2 publications

References 27 publications

Keratoconus associated with hereditary sensory and autonomic neuropathy II

Keratoconus associated with hereditary sensory and autonomic neuropathy II

Hereditary Sensory and Autonomic Neuropathy Type Viii

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