Congenital insensitivity to pain

1. Congenital insensitivity to pain By Christian Holsinger

2. What is Congenital insensitivity to pain Congenital insensitivity to pain is a condition that inhibits the ability to perceive physical pain. From birth, affected individuals never feel pain in any part of their body when injured. People with this condition can feel the difference between sharp and dull and hot and cold, but cannot sense, for example, that a hot beverage is burning their tongue. This lack of pain awareness often leads to an accumulation of wounds, bruises, broken bones, and other health issues that may go undetected.

3. What is Congenital insensitivity to pain Young children with congenital insensitivity to pain may have mouth or finger wounds due to repeated self-biting and may also experience multiple burn-related injuries. These repeated injuries often lead to a reduced life expectancy in people with congenital insensitivity to pain. Many people with congenital insensitivity to pain also have a complete loss of the sense of smell . Congenital insensitivity to pain is considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain

4. What causes congenital insensitivity to pain Causes of Congenital insensitivity to pain and anhidrosis (CIPA) can vary from case to case, however the cause can commonly be attributed to neuropathy (defective nociception) and genetic mutations of vital receptors. The human TRKA gene, located on chromosome 1q21–q22, can cause CIPA because of the frameshift, splice-site or nonsense mutations in the NRTK1 gene. As mentioned above, this mutation prevents the normal encoding of RTK receptors responsible for producing proteins that nociceptors are dependent upon. This lack of functionality creates the absence of pain and temperature detection.

5. Causes cont. Patients who suffer from CIPA have shown a lack of primary sensory neurons in Lissauer’s tract the ganglia and the dorsal roots. Patients also lack cells such as small ganglion in the dorsal ganglia. In addition to lacking these structures, small myelinated fibers and nonmyelinatedfibres of the dorsal ganglia are absent. The dorsal ganglia and root are important in the relaying of sensory afferent nerves. The absence of these structures form the basis of the insensitivity to pain and anhidrosis is caused by a similar lack of innervation, though of eccrine sweat glands by the sympathetic nerves (Parvari et al., 2003). Although individuals with CIPA appear to have normal sweat glands, they have an inability to produce sweat. The lack of sweating associated with anhidrosis is due to the inability of the skin to sense temperature changes in the internal and external environment.

6. Cure No cure or way to slow down disease

7. Test There is a test to see if you are a carrier

8. Congenital Insensitivity to pain

9. Resources http://ghr.nlm.nih.gov/condition/congenital-insensitivity-to-pain http://hmg.oxfordjournals.org/content/10/3/179.full http://hilo.hawaii.edu/academics/hohonu/documents/Vol06x04CongenitalInsensitivitytoPainwithAnhidrosis.pdf