SNP Shot: Genomic Insights

Hereditary sensory and autonomic neuropathy type V (HSAN5) is a disorder impacting primarily sensory neurons. These nerve cells are responsible for relaying sensory information, including pain, temperature, and touch. Individuals with HSAN5 experience deficits in these sensations.

HSAN5 symptoms typically manifest early in life, often at birth or in infancy. A key characteristic is the inability to perceive pain, heat, and cold. Deep pain perception, which arises from injuries to bones, ligaments, or muscles, is particularly compromised. This lack of deep pain sensation can result in repeated and severe, yet unnoticed, injuries like bone fractures and joint damage. This repeated trauma can lead to Charcot joints, a condition marked by the destruction of bones and surrounding tissues within the joints.

Inheritance:

HSAN5 follows an autosomal recessive inheritance pattern. This means that an individual must inherit two mutated copies of the relevant gene, one from each parent, to develop the condition. While both parents carry one copy of the mutated gene, they usually do not exhibit any symptoms of HSAN5 themselves.