Progeria
is rare genetic disorder also called 'Hutchinson-Gilford
progeria syndrome'. The word progeria has originated from the Greek word
'geras' which means old age and 'pro' means early. As the name suggests this
disorder is one of those progeroid syndromes that cause premature aging. The
patients suffering from this disorder age eight times faster than an average
person.
This disorder was first recognised by Dr. Jonathan Hutchinson in
1886 and Dr. Hastings Gilford in 1904. This disorder is due to abnormal
modification of a protein. In healthy cell LMNA gene encodes for a protein
Prelamin A which is converted into Lamin A, in progeric cells Prelamin is
produced but is converted into Progerin instead of Lamin A. This change in the
protein causes abnormality in the shape of the nucleus. Progerin also help
cells in aging but due to this disorder cells age is accelerated by EIGHT
TIMES. This causes the individual suffering from this disorder age eight times
faster.
Children with progeria appear normal at birth. During the first
years of life progeria symptoms can be seen, they include:-
- Height and weight below average.
- Narrowed face and thin lips.
- Head appears larger than face.
- Alopecia (hair loss throughout body including
eyelashes and eyebrows).
- Visible veins.
- High pitched voice.
- Spotting and wrinkling of skin.
- Abnormal tooth formation.
- Fragile bones, stiff joints and hip dislocation.
- Insulin resistance.
- Several cardiovascular (heart) diseases.
This rare genetic disorder affects only 1 in 4000000. No treatment
is effective to cure progeria. Doctors usually treat these patients to reduce
complications like risk of cardiovascular diseases with bypass surgery or low
aspirin doses. These patients are also advised to take a high energy diet, stay
well hydrated and do regular physical activity. People around progeria
patients should treat them equal and boost their morale.
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