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Congenital Insensitivity to Pain

Congenital Insensitivity to Pain

  • Rare
  • About 300 cases worldwide have been recorded
  • Shorter life expectancy
  • Many patients do not live past 25 years old

Congenital Insensitivity to Pain with Anhidrosis

  • Exceedingly Rare
  • Currency of disorder is unknown
  • Most patients die by the age of 3 from symptoms
  • About 60 recorded cases within the United States

CIP and CIPA are both inherited by an autosomal recessive pattern.

  • Autosomal recessive pattern- when both copies of the gene in each cell has mutations

The parents with this pattern each carry one copy of the mutated gene. This problem doesn't give the parents symptoms or signs of this condition.

By Sydney Chock,Ye-Ri Ha, Janelle Lauronal, & Kaysey Siobal

A Real Life Example

Ashlyn Blocker is one of a few that has CIPA. Because of her condition, teachers must keep a close eye on her in case she gets hurt. Others may see this condition as a good thing, but it really isn't.

Cause of CIP

CIP is caused by a mutation in gene SCN9A.

SCN9A is one of the genes that create voltage-gated sodium channels. This particular sodium channel, NaV1.7, is found in nociceptor cells which send pain signals to the brain. The mutation in SCN9A is a nonsense mutation making the sense codon a stop codon. Because of this mutation, there is a loss of NaV1.7 function causing an individual to not feel physical pain.

Impact on Individual Person

A person who has CIP would not be able to feel pain if they were to cut their hand with a knife by accident. Self mutilation is common with people who have CIP because they do not feel the pain and they do not know the danger they are really in.

A person with CIPA would not be able to feel pain and temperature. They could stick their hand in boiling water and not feel anything. Because of anhidrosis, they wouldn't be able to sweat causing them to have abnormal body temperatures .

What is Congenital Insensitivity to Pain?

Symptoms 3 Symptoms 4

Heal slowly from skin and bone injuries

Lichenification

Congenital Insensitivity to Pain (CIP) is a genetic disorder causing an inability to feel physical pain. Some with the disorder also lose their ability to smell.

Congenital Insensitivity to Pain with Anhidrosis (CIPA) is a genetic disorder where one cannot feel physical pain, temperature, and has the inability to sweat.

Those these disorders cause one to feel no physical pain, they will still have emotions, therefore they will feel emotional pain along with other emotions.

What CIPA means...

Cause of CIPA

=> Congenital Insensitivity to Pain with Anhidrosis

  • Chronic bone infections (osteomyelitis)
  • Charcot joints
  • Thick, leathery skin on the palms
  • Misshapen fingernails or toenails

  • Congenital --> Present from birth
  • Insensitivity to pain --> Cannot feel pain
  • Anhidrosis--> inability to sweat

CIPA is also called autonomic neuropathy type IV. The cause of CIPA is not caused by a mutation on gene SCN9A, however it is caused by a mutation on gene NTRK1. NTRK1 is essential to nerve cell growth and survival. Nerves are what sends signals such as temperature, pain, and touch to our brain. The mutation in NTRK1 causes it to not send out the signals to the neurons. The neurons then die causing the person to lose their sensory abilities and ability to sweat.

The End!

Emotional Instability

Hyperactivity

More Symptoms and Side Effects

Symptoms 1 Symptoms 2

An inability to sweat (Anhidrosis)

An inability to feel pain and temperature

Intellectual Disability

Hypotonia

(decreased muscle tone)

As mentioned before, there is a girl named Ashlyn Bloker who experiences CIPA. This camp is a camp run by her family to support those living with CIPA. It is held when the weather is cool because they don't want anyone overheating. The goal of this camp is to let the families have as normal of a camping trip they could have. This place is to show that people with this rare disorder are not alone.

  • Hyperpyrexia (Extremely high fever)
  • Febrile seizures
  • Heatstroke
  • Repeated severe injuries
  • Unintentional self-injury
  • Spontaneous amputation
  • Serious burns

Treatments and Research

If you want to find out more about Camp Painless but Hopeless or better yet, donate, then you can check their website:

http://www.painlessbuthopeful.org/Home_Page.php

Is Congenital Insensitivity to Pain Inherited?

Camp Painless but Hopeful

There are many clinical tests that can be done to test whether or not a child has CIP or CIPA. Parents can also consult a genetic counselor to be

advised if their child will have CIP or CIPA.

There are no universal treatments or cure for CIP or CIPA because of the many different symptoms and rarity. The only form of treatment is early education and maintenance. By learning early what CIP is,

parents can monitor their children carefully to

keep them safe. Regular medical appointments

are recommended and maintaining body

temperature as well. There is also therapy for

those dealing with CIP or CIPA.

Research

In order to learn more and gain information about the disease, there have been many studies. There have been studies with a Canadian family who exhibits the disorder. This study contributed to the knowledge location of the mutation. Here they were able to map out the location of the mutated gene.

Although the disorder is rare worldwide, during the early stages of CIPA studies there were many patients in southern Pakistan with the disease. They came to the conclusion that because of the disease, many were prone to infections, lesions, and fever.

Research has been ongoing since the 90's.

Bibliography

Impact on Society

  • "Congenital Insensitivity to Pain." - Genetics Home Reference. N.p., n.d. Web. 17 Mar. 2014. <http://ghr.nlm.nih.gov/condition/congenital-insensitivity-to-pain>.
  • "Neuroscience Fundamentals - Congenital insensitivity to pain." Neuroscience Fundamentals - home. N.p., n.d. Web. 19 Mar. 2014. <http://neurosciencefundamentals.unsw.wikispaces.net/Congenital+insensitivity+to+pain>.
  • "Pain: MedlinePlus." National Library of Medicine - National Institutes of Health. N.p., n.d. Web. 19 Mar. 2014. <http://www.nlm.nih.gov/medlineplus/pain.html>.
  • Congenital Insensitivity to Pain. (n.d.). Retrieved from http://neurosciencefundamentals.unsw.wikispaces.net/Congenital+insensitivity+to+pain
  • "Rare Disease Makes Girl Unable to Feel Pain." NBC News. N.p., 1 Nov. 2004. Web. 19 Mar. 2014. <http://www.nbcnews.com/id/6379795/ns/health-childrens_health/t/rare-disease-makes-girl-unable-feel-pain/#.Uynu_fldUeg>.
  • "CIPA - Genetics Home Reference." Genetics Home Reference - Your guide to understanding genetic conditions. N.p., n.d. Web. 19 Mar. 2014. <http://ghr.nlm.nih.gov/condition/congenital-insensitivity-to-pain-with-anhidrosis>.
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