Hereditary sensory and autonomic neuropathy type V

Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN5.

The signs and symptoms of HSAN5 appear early, usually at birth or during infancy. People with HSAN5 lose the ability to feel pain, heat, and cold. Deep pain perception, the feeling of pain from injuries to bones, ligaments, or muscles, is especially affected in people with HSAN5. Because of the inability to feel deep pain, affected individuals suffer repeated severe injuries such as bone fractures and joint injuries that go unnoticed. Repeated trauma can lead to a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed.

Other names

Congenital insensitivity to pain; Congenital sensory neuropathy with selective loss of small myelinated fibers; Hereditary sensory and autonomic neuropathy, type 5; HSAN type V; HSAN V; HSAN5

Inheritance pattern

Autosomal recessive

Related genes

NGF

Source: MedlinePlus Genetics, U.S. National Library of Medicine.