Monday, January 30, 2012

Name That Disease #19

Something else I haven't done in a while. Can you name this disease?

Image is from Wikimedia Commons under a Creative Commons license



This child has progeria, also known as Hutchinson-Gilford progeria syndrome and premature aging. The condition is genetic and quite unusual, showing symptoms that are quite similar to what is normally seen in people who are quite old. Children are born normal, and symptoms develop as they age. These symptoms include baldness, a wrinkled or shrunken face, a small jaw, failure to grow normally, slow to emerge or absent teeth, loss of facial hair (eyelashes and eyebrows), an abnormally large head when compared to the face, short stature, a soft spot that doesn't close, limitation in range of motion and skin that is dry, scaly, and thin. Diagnosis of this condition can be done using a variety of methods. Laboratory testing, physical exams, and even genetic testing can all be done. There is no known treatment.

Unfortunately, expected lifespan of children with progeria is short, with the oldest individuals dieing in their early twenties. The leading causes of death are stroke and heart attack. The cause of progeria is the malformation of a single protein. Though a genetic condition, it is highly unusual for the condition to be inherited. It instead comes from new mutation, making it extraordinarily unlikely for two members of the same family to have it. According to the Progeria Research Foundation, there are currently seventy-eight individuals with progeria.

Sources are PubMed Health and the Progeria Research Foundation.

4 comments:

  1. This is a most haunting image. What is the disease?

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  2. If you click "read more" you'll see the answer.

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  3. It's such a sad condition. Having a baby born who appears completely normal only to discover as they grow, something is amiss. Also knowing you will most likely bury your child must be one of the worst feelings in the world.

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    1. I agree, it is quite sad. I really do hope they're able to find some sort of cure.

      Unfortunately, right now the best thing to do is try and give the child the best life possible in the short time they have. I've seen several documentaries on these children, and it's amazing how vibrant and happy they can be. It's a sign of good parenting, I believe.

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