Please enable JavaScript.
Coggle requires JavaScript to display documents.
Progeria - Coggle Diagram
Progeria
Incidence
-
The Progeria Research Foundation was created in 1999, HGPS cases have been discovered children with Progeria living in over 40 different countries.
-
According to the Progeria Research Foundation, however, estimated there are over 250 such children fighting this disease of which 60 are from India.
-
History
-
-
-
The word progeria comes from the Greek words "pro" (πρό), meaning "before" or "premature", and "gēras" (γῆρας), meaning "old age".
Cognitive Development
-
-
With respect to features of aging that progeria does not exhibit, patients show no neurodegeneration or cancer predisposition.
Lifespan
The average lifespan for Progeria is 13 years, although some live into their 20s.
-
Tiffany Wedekind of Columbus, Ohio, is believed to be the oldest survivor of progeria at 43 years old as of 2020
Cause
Single gene mutation
The gene, known as lamin A (LMNA), makes a protein necessary for holding the center (nucleus) of a cell together.
When this gene has a defect (mutation), an abnormal form of the lamin A protein called progerin is produced and makes cells unstable.
Unlike many genetic mutations, progeria is rarely passed down in families. Most cases are of chance, and not hereditary.
Signs and Symptoms
Appearance
-
Narrowed face, small lower jaw, thin lips and beaked nose
-
Hair loss - eyebrows, eyelashes,
Prominent eyes, and incomplete closure of eyelids
Thin, spotty, wrinkly skin
-
-
-
-
A rare genetic disorder that starts in the first 2 years of life, causing the child to age rapidly
No cure as of right now, but research for treatment is available