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What is Progeria

There are several rare, less understood diseases in the world with out any treatment or cure. Research studies indicate that these diseases are genetic in origin. But further explanation on these diseases is not available yet. Most of the knowledge gained about these diseases is gathered by observing the unfortunate patients. Since these diseases are neither treated not cured, awareness about them is imperative. One such rare global diseases is Progeria. One in every eight million babies born is diagnosed with this disease. This article tries to gain further insight on this dreadful disease.

What is Progeria?

  • The word is derived from Greek and explains the characteristic of this ailment in simple terms: Pre-mature and accelerated ageing.
  • Babies born with this disease age very fast physically. Their mental development is not affected, however.
  • On an average the life span of such babies is only thirteen years. It is rare that they out live.
  • When there are changes (technically called mutation), in the natural instructions of our body (called genes), this disease is caused.
  • Generally this disease is not inherited, although there is a very rare form of Progeria which is inheritable, called Dyskeratosis congenita.
  • It is also known as the Hutchinson-Gilford Progeria syndrome (HGPS). Progeria was first described by Jonathan Hutchison in 1886 and later by Hastings Gilford in 1897, and hence the name.
  • There are 35 to 45 known cases of this disease in the world presently.
  • A total of 100 medical cases are known to exist in entire medical history of the world.

Symptoms of Progeria:

  • Poor weight gain
  • Poor growth of height
  • Hardening of skin in local areas of the body
  • Post infancy, growth is limited
  • Hair loss commences
  • Face and jaw become small
  • Nose is pinched
  • Body becomes small and fragile
  • Wrinkles in the skin appear
  • Heart related problems appear

These symptoms are mainly helpful in the initial diagnosis of the disease. However, it is confirmed only after carrying out a genetic test. 90 percent of patients die from heart related complications like stroke and heart attack, by the time they reach their pre-teenage. There is no cure for Progeria. Treatments techniques known exist are not effective and only focus on delaying the conditions of heart complications.

1 response to What is Progeria

  1. I would like to know more on this disease. I am currently in the process of doing an oral exam on this particular disease and I would like to find out more information . Thank you

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