Hereditary sensory and autonomic neuropathy type V
Hereditary sensory and autonomic neuropathy type V is a rare genetic condition that impairs the ability to feel pain, temperature, and touch from birth or infancy. This lack of pain perception often leads to repeated, unnoticed injuries and joint destruction.
Overview
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 this condition.
Symptoms
The signs and symptoms of HSAN5 appear early, usually at birth or during infancy. Affected individuals experience the following:
- Loss of the ability to feel pain, heat, and cold.
- Severely impaired deep pain perception, which is the feeling of pain from injuries to bones, ligaments, or muscles.
- Repeated severe injuries, such as bone fractures and joint injuries, that go unnoticed due to the inability to feel deep pain.
- Development of Charcot joints, a condition in which repeated trauma destroys the bones and tissue surrounding the joints.
Frequency
HSAN5 is very rare. Only a few people with the condition have been identified.
Causes
Mutations in the NGF gene cause HSAN5. The NGF gene provides instructions for making a protein called nerve growth factor beta (NGFβ), which is important in the development and survival of nerve cells (neurons), including sensory neurons.
The NGFβ protein functions by attaching (binding) to its receptors, which are found on the surface of neurons. Binding of the NGFβ protein to its receptor transmits signals to the cell to grow, mature, and take on specialized functions (differentiate). This binding also blocks signals in the cell that initiate the process of self-destruction (apoptosis). Additionally, NGFβ signaling plays a role in pain sensation.
Mutation of the NGF gene leads to the production of a protein that cannot bind to the receptor and does not transmit signals properly. Without the proper signaling, sensory neurons die and pain sensation is altered, resulting in the inability of people with HSAN5 to feel pain.
Associated Gene
- NGF
Inheritance
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Other Names for This Condition
- 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