Hereditary sensory and autonomic neuropathy type V

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Disease Overview

Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that affects the sensory nerve cells. These cells, which are also called sensory neurons, transmit information about sensations such as pain, temperature, and touch. Signs and symptoms of the condition generally develop at birth or during early infancy and may include a loss of pain and temperature sensation. Because of the inability to feel deep pain, affected people suffer repeated severe injuries such as bone fractures and joint injuries that go unnoticed. HSAN5 is caused by changes (mutations) in the NGF gene and is inherited in an autosomal recessive manner. Medical management is based on the signs and symptoms present in each person and is oriented to control hyperthermia (elevated body temperature) and prevent injury.[9873][9874]


Synonyms

  • Congenital insensitivity to pain and thermal analgesia
  • HSAN5
  • Hereditary sensory and autonomic neuropathy type 5
  • Neuropathy, hereditary sensory and autonomic, type V
  • HSAN V
  • INSENSITIVITY TO PAIN, CONGENITAL

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National Organization for Rare Disorders