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A patient and doctor discuss congenital insensitivity to pain. For people with this disorder, cognition and sensation are otherwise normal; for instance, patients can still feel discriminative touch (though not always temperature [3]), and there are generally no detectable physical abnormalities.
Since people with this condition are unable to sweat, they are unable to properly regulate their body temperature. [1] Those affected are unable to feel pain and temperature. [2] [3] The absence of pain experienced by people with CIPA puts them at high risk for accidental self-injury. Corneal ulceration occurs due to lack of protective impulses ...
Marsili syndrome is an extremely rare genetic disorder which is characterized by symptoms similar to those reported on individuals with congenital insensitivity to pain with anhidrosis. It can be fatal if it goes unnoticed/undiagnosed.
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.
Familial dysautonomia (FD), also known as Riley–Day syndrome, is a rare, [2] progressive, [3] recessive genetic disorder of the autonomic nervous system [2] that affects the development and survival of sensory, sympathetic, and some parasympathetic neurons in the autonomic and sensory nervous system.
Locked-in syndrome may mimic loss of consciousness in patients, or, in the case that respiratory control is lost, may even resemble death. People are also unable to actuate standard motor responses such as withdrawal from pain; as a result, testing often requires making requests of the patient such as blinking or vertical eye movement.
The onset of the disease varies between the 2nd and 5th decade of life, [2] albeit congenital or childhood onset has occasionally been reported. [1] [9] With the progression of the disease, the affected individuals lose the ability to feel pain in their feet and legs. Minor injuries in the painless area can result in slow-healing wounds which ...
In addition to instances of asomatognosia in which patients deny ownership of a specific part, this condition is also associated with the following: anosognosia (unawareness or denial of illness), anosodiaphoria (indifference to illness), autopagnosia (inability to localize and name body parts), and asymbolia for pain (absence of typical reactions to pain).