Reverse Benjamin Button Disease – Everything you need to know

Written by Priyanka Singha
Does the title remind you of the movie The Curious case of Benjamin Button? Do you remember about the condition portrayed in the movie when a young boy starts exhibiting signs and appearance of an older man while reversing in age? That movie seemed quite a fantasy movie for the audience who were not aware of this certain genetic condition. But the disease is real and has affected only about 130 people since 1886. This is a very rare condition and is known to people usually by the name progeria disease. 

Here is some information on the “what’s and why’s of Reverse Benjamin Button Disease”. 

What is Progeria?
Progeria is caused by a genetic mutation where a person ages very fast in the reverse order. That is why it is also known as Reverse Benjamin Button Disease. A person having progeria is well-affected in their childhood as the entire ageing process starts right when they are young. From medical tests, their organs and body can be diagnosed to be aged upto hundred years. Premature ageing starts quite early, somewhat in their teen years.

Diagnosis of Progeria
A baby born with progeria is difficult to diagnose in the early stages. They are born with regular features with no signs of premature ageing. But as they start growing in their years, signs of progeria start showing within the first two years.

Progeria is an extremely rare disease and is believed to be caused by genetic mutation passed on by either of the parents. That doesn’t necessarily mean that the parent also suffers from progeria. 

A paediatrician is the best person to detect if a child has Progeria based on the signs and symptoms characteristic to the disease. A genetic test for LMNA mutation will help in diagnosing the disease.

Visual signs and symptoms that point to Progeria

  • The dimension of the head is bigger than the rest of the face
  • Eyes are large and wide than usual
  • Nose has a pointed tip looking like a bird’s beak
  • The lower jaw looks smaller with a bluish tint around the mouth area
  • Very-high pitched voice
  • Veins are prominently visible through the skin
  • Loss of body fat density and muscles
  • Loss of hair from every part of body, even eyebrows and eyelashes
Effects of Progeria
Since progeria is a premature ageing genetic disease not just from the outside, every part of the body starts ageing rapidly. A progeria child will experience every health issue that is common to an aged person.

  • Joint abnormalities
  • Hard arteries
  • Weak and brittle bones
  • Defect in nails and nail bed
  • Wrinkles
Treatment of Progeria
Sadly but true, progeria has no medication or cure. Since the organs and tissues start ageing at a faster rate, life expectancy also decreases by many years. 

However, Pediatricians may suggest physiotherapy and occupational therapy that might help in improving the way of life. 

A child suffering from Progeria has the right to be loved and supported by the society. 

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