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Transcript

History

Gibson had sustained several injuries over his lifetime, including a blow to the face from a pickaxe and a bullet through the finger-all with an indifference to pain

  • After Dearborn's study, several terms were used to describe these individuals:
  • Congenital universal insensitiveness to pain (1938)
  • Congenital universal indifference to pain (1949)
  • Congenital absence of pain (1962)

History

  • From 1950-1970, two terms were used to describe Congenital Analgesia interchangeably:
  • congenital insensitivity to pain
  • congenital indifference to pain

Congenital

Analgesia

  • First described in a case study as a "Case of Congenital Pure Analgesia"
  • Recorded in 1932 by Dr. Dearborn
  • Dearborn analyzed the injuries sustained by the Edward H. Gibson, who was referred to as the human pincushion

By Taylor, Nicole, Cristal and Nicholas

Epidemiology

  • Most individuals with Congenital Analgesia do not live past 25 years old
  • 20% of patients with Congenital Analgesia whom also have anhidrosis may have episodes of Hypothermia and die within the first three years

Epidemiology

  • Congenital Analgesia is caused by a mutation or genetic error in the NTRK1 gene
  • Can cause an individual to inherit an autosomal recessive gene in a cell which can be mutated in both parents, but not show signs of this condition unlike some cases in their child
  • Inheritance of each sin of an affected individual has a 25% change of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier
  • The chances of being born with such disease is 1 in 125 million

Congenital

Analgesia

Response and Treatment

  • A documentary called A Life Without Pain (2005) was filmed about Gabby Gingras, who was born with Congenital Analgesia
  • The documentary investigated Gabby's response to the disease and her parent's struggle to find a treatment

Response and Treatment

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Response and Treatment

Since there are no formal signs or symptoms of this disease, there is no permanent treatment for Congenital Analgesia

History

History

  • The two terms now have two distinct meanings:
  • congenital insensitivity to pain- those who are unable to perceive sensations of pain at all
  • congenital indifference to pain- those who can sense painful stimuli but are unable to react to the pain
  • in 1983, the presence of nerve damage is used to determine an indifference to pain
  • From 1950-1970, two terms were used to describe Congenital Analgesia interchangeably:
  • congenital insensitivity to pain
  • congenital indifference to pain
  • Several alternative and temporary treatments are available:
  • An oral antibiotic is available to help the body treat any infections caused daily since the body cannot feel pain
  • Doctors suggest extracting baby teeth from the patient, to prevent the child from biting through their tongue, lips or finger tips
  • It is believed that once they're an adult, they will be able to understand the condition and know not to chew through their own body parts
  • Occupational therapy has also been suggested to help teach the patient what is the proper way of daily activity
  • The child will learn what is appropriate behavior and what is not

Response and Treatment

  • Testing for Congenital Analgesia on patients was rather explicit
  • On children, lighters were used and held under the foot to the point of blistering
  • Needles were run up and down to see if a response was triggered by the spinal cord

Thank You!

Etiology and Pathology

  • Congenital-meaning to exist since birth
  • Analgesia-meaning "absence of pain"
  • Congenital Analgesia is a complete insensitivity to pain
  • Genetic defect caused during DNA replication and coding

ECG

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