SNP Shot: Genomic Insights

Paroxysmal extreme pain disorder involves episodes of intense pain in different areas of the body, accompanied by skin redness and warmth (flushing) in the same region as the pain. These pain attacks usually last from seconds to minutes, but can sometimes persist for hours. The disorder often begins in infancy, with pain typically localized in the lower body, particularly the rectum, and often triggered by bowel movements. Some children may develop constipation due to fear of inducing pain. These early pain episodes may also be associated with seizures, a slowed heart rate, or brief pauses in breathing (apnea).

As individuals with paroxysmal extreme pain disorder get older, the location of the pain tends to shift. Pain attacks transition from primarily affecting the lower body to affecting the head and face, particularly the eyes and jaw. Triggers for these later pain attacks can include temperature changes (like exposure to cold wind), emotional upset, consuming spicy foods, and drinking cold beverages.

Paroxysmal extreme pain disorder is classified as a peripheral neuropathy because it impacts the peripheral nervous system. This system serves as the communication network between the brain and spinal cord and muscles and sensory cells responsible for detecting sensations like touch, smell, and pain.

Inheritance:

The inheritance pattern for this condition is autosomal dominant. This means that only one copy of the mutated gene in each cell is enough to cause the disorder.