Let's Reveal...
Let me start my post with a question...
So guys..Do you have any idea about
most rare disease in our planet???๐ค
if your ans is NO..then you will come to know within few seconds
Yes...your guess is right! It's non but our today's
topic" PROGERIA''
" Everyone wants to look 16 years old in their 60's.But, What if you look 60 years old in 16 "
Progeria is an extremely rare
autosomal dominant genetic disorder[Abnormal gene from one parent is enough to cause disease in a child]
Why Abnormal??
Mutation or change in lamina A,which makes a protein that holds nucleus
of a cell together,because of this mutation, protein becomes defective and
ultimately leads to nucleus unstable.
NOTE:-Also called as a
HUTCHINSON GILFORD SYNDROME
Because,1st described by Hutchinson in 1886 and later briefly described by
Gilford in 1897.And another name Progeria,where pro means before and geria
means aging/getting old
Symptoms:-
- Short Height
- Pinched Nose
- Small Face
- Hair Loss
- Scalp and Eyes are prominent
Complications:-
- Heart Diseases
- Stroke
- Hip Dislocation
Diagnosis:-
- Based on symptoms and genetic test.
HOW RARE IS THIS DISEASES?
1 in 18 Million
AVERAGE LIFE SPAN?
13 years old
90% patients die after gaining certain complication like
Cardiovascular issues ,Stroke etc
Treatment:-
No treatment yet proven effective but complications can be minimised
with few surgery and medications.
Few Good things to know :-
-
Do not affect brain cells and hence Mental Development is not
affected.
-
Usually never passes from parents to child as affected parent rarely live
for 13 years.So less chances of giving birth.
3. Meet Margaret casey☝,29 years old survivor from progeria. It's really great
to survive for such a long time..
So,this was all about most rare diseases in our planet.I hope my post was
quite interesting to read.If yes,then comment and let know through
comment box
And please don't forget to share among your friends..i would be really glad๐
To know more..must watch' Paa''movie and share your knowledge about movie with us in
comment section.
STAY TUNED TILL NEXT POST
THANK YOU ๐
Nice one very informative
ReplyDeleteThanku so much ๐ฏ
DeleteNice 1⃣๐ฏ
DeleteThanku☺️๐
DeleteGreat!!! Very informative and Paa is one of the most heart touching movies and you have explained really well about this disease
ReplyDeleteYes..true๐ฏvery emotional movie
DeleteThanku☺️
Such rarest diseases show how unpredictable life could be!
ReplyDeleteYes dear...๐ฏ
DeleteThanku☺️
Very Informative๐
ReplyDeleteThanku☺️✌️
DeleteVery short life of this survivor. I hope science will invent some medicines for this disease. Good collection Harika๐๐
ReplyDeleteYes sir,Hope the day arrive so soon...๐๐ฏ
DeleteVery informative ����
ReplyDeleteThanku dhi☺️✌️
Delete