From Childhood to Old Age in the Blink of an Eye

General
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Do you remember the Bollywood movie “PAA”? Do you remember the disease that was portrayed in that movie, A Child Aging Very Fast? It was Progeria!

Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS) an extremely rare disorder. At birth, the newborn looks completely normal. The manifestation of the disease starts around 1-2 years of life. 1 in 4 million children suffer worldwide. It is a genetic condition where ageing begins rapidly in early childhood. Making children appear old.

How it happens:
It is caused by a mutation in the LMNA gene, which produce abnormal gene called progerin. This gene makes cells unstable, leading to early aging.

Signs And Symptoms

  • Slow growth
  • Hair loss
  • Thin and wrinkled skin
  • Large head with a small face
  • Joint stiffness
  • Loss of body fat and muscle

Life span - average life span is 13-15 years.

Treatment
No cure has yet been found for this disorder. Treatment to improve the quality of life is administered:

  • Medication for cardiovascular health
  • Physiotherapy for joints
  • Nutritional support
  • A drug, “Lonafarnib,” has shown improved survival in some patients.

Progeria is a rare genetic disorder with no cure, causing children to age rapidly due to a mutation of the LMNA gene.

Progeria
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Why do rare diseases still receive so little attention?

MBH/PS

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Very informative. Such diseases needs attention for further research regarding treatment options

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As these diseases are rare there is not much awareness about this and thus there is not much attention paid to it as much as compared to frequently occurring diseases.

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Very true

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Yes we do need to do more researches for these rare disorders.

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informative.
Rare disease still receives little attention because of low awareness and no attention; fewer patients are affecting and along with limited funding, but they still deserve much more attention.

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These disorders are very rare and studies must be carried out to know more about them.

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There is not much financial profit for rare diseases. That’s probably the reason why rare diseases are less researched on.

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Yes, that’s true it’s a rare disorder, thus it’s actually hard to research on it due to low funding, but surely research should be done, as with developed medical science, maybe we might be able to find a cure.

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Absolutely, that’s the reason

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ture

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Since, it’s rare condition, attention is less…

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Yes