SNP Shot: Genomic Insights

Channelopathy-associated congenital insensitivity to pain (channelopathy-CIP) is a rare disorder that prevents individuals from feeling physical pain. Individuals with this condition are born without the ability to sense pain anywhere in their body, even when injured. While they can differentiate between sensations like sharp and dull or hot and cold, they are unable to perceive the painful sensation associated with those stimuli – for instance, feeling the burning sensation of a hot drink. Because pain serves as a crucial warning signal to avoid harm, individuals with channelopathy-CIP are prone to frequent injuries and may have a reduced lifespan.

The initial indications of channelopathy-CIP often become apparent in infancy when a baby exhibits no reaction to potentially painful stimuli like injuries or medical interventions such as vaccinations. Young children with this condition may exhibit self-inflicted injuries such as bites or burns.

The absence of pain perception frequently results in undetected wounds, bruises, fractures, and other medical problems. Chronic joint injuries, frequently occurring with fractures, can cause joint deformities and subsequent functional loss of the affected limb. Undetected eye injuries can result in vision impairment. A significant number of individuals with channelopathy-CIP also experience a complete loss of the sense of smell, known as anosmia.

Channelopathy-CIP is classified as a peripheral neuropathy because it affects the peripheral nervous system. This system is responsible for connecting the brain and spinal cord to muscles and sensory cells, including those that detect touch, smell, and pain.

Inheritance:

Channelopathy-CIP follows an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of a mutated gene, one from each parent, to develop the condition. The parents, who each carry only one copy of the mutated gene, are typically asymptomatic carriers.