The SCNA gene & genetics: Word Count: 221 Congenital insensitivity to pain is a rare, autosomal recessive sensory neuropathy first reported by Dearborn in 1932. People with this disorder experience lack of reaction to painful stimuli, self-mutating behavior. Usually it is identified early in the childhood, as the affected child will seldom cry of pain. This disease is an autosomal recessive disorder with no racial distribution. Half of the cases reported are in children born to consanguineous marriages. Mutations in the SCNA gene cause congenital insensitivity to pain. The SCNA gene supplies directions for making one part (the alpha subunit) of a sodium channel called NaV1.7. Sodium channels are found in nerve cells called nociceptors that…show more content… The patients present with unexplained fever form poor thermoregulation and inability to sweat. Due to the indifference to pain, they manifest frequent traumatic and infectious injuries. Evaluations of these patients include investigation of the hypotonia and weakness evident in this group of patients. They examined these patients muscle biopsies and found that they unveiled marked myopatic changes. The muscle biopsy of the third patient showed mild variation in the muscle fibers and the fourth patients muscle biopsy showed type 1 fiber predominance. Electron microscopy studies revealed remarkable decrease in the number of small caliber-myelinated and unmyelinated nerve fibers. We assume that the variable histogical findings in the muscle biopsies of these patients reflect a variation in congenital analgesia with anihidrosis patients that is not related to their genetic…show more content… Instead, treatment is focused on the management of symptoms and prevention of injury and infection. Sometimes people take antibiotics to treat infections. They can be taken by mouth or applied to the skin to treat infections. Several different types of behavioral therapy are available to help people with CIPA. These options can help them improve their communication skills and social skills as well as strengthen their learning abilities and adaptive behaviors. Evidence suggests that behavioral therapy is most effective if it is started early in life. Occupational therapy is another option. They can benefit greatly from this. During sessions, a therapist helps the child learn the skills needed to perform basic daily tasks, such as feeding, dressing, and communicating with others. Some patients work with therapists who specialize in disorders and disabilities. Parents and caregivers can ask their child’s pediatrician to recommend a
