Progeria, also known as Hutchinson-Gilford Progeria Syndrome, is a rare genetic condition that causes rapid aging in children. It is caused by a mutation in the LMNA gene which produces lamin A protein that holds the nucleus of cells together. Children with progeria appear healthy at birth but start displaying signs of aging between 1-2 years old, such as hair loss, failure to grow, and cardiovascular issues. There is no cure for progeria and affected children typically live into their late teens or early twenties, most commonly dying from heart disease. While research continues for a cure, current treatment focuses on alleviating joint issues and maintaining mobility and quality of life.
Progeria (HGPS), also known as Hutchinson-Gilford syndrome, is a progressive genetic disorder that causes children to age rapidly, beginning in their first two years.
Progeria (HGPS), also known as Hutchinson-Gilford syndrome, is a progressive genetic disorder that causes children to age rapidly, beginning in their first two years.
FRAGILE X SYNDROME ( FXS ) an inherited cause of mental retardation.shhhoaib
-FXS is a genetic syndrome that is the most widespread single-gene cause of autism and inherited cause of mental retardation.
- It is associated with the expansion of the CGG trinucleotide repeat affecting the Fragile X mental retardation 1 (FMR1) gene on the X chromosome.
- Resulting in a failure to express the fragile X mental retardation protein (FMRP).
-FMRP is required for normal neural development.
-Absence of FMRP leads to abnormalities in brain development and function.
Fragile X syndrome causes mild to severe intellectual disability. It affects both males and females, but females usually have milder symptoms.
Symptoms include delays in talking, anxiety and hyperactive behaviour. Some people have seizures. Physical features might include large ears, a long face, a prominent jaw and forehead and flat feet.
Therapy can be used to treat learning disabilities. Medication may be used to treat anxiety and mood disorders.
FRAGILE X SYNDROME ( FXS ) an inherited cause of mental retardation.shhhoaib
-FXS is a genetic syndrome that is the most widespread single-gene cause of autism and inherited cause of mental retardation.
- It is associated with the expansion of the CGG trinucleotide repeat affecting the Fragile X mental retardation 1 (FMR1) gene on the X chromosome.
- Resulting in a failure to express the fragile X mental retardation protein (FMRP).
-FMRP is required for normal neural development.
-Absence of FMRP leads to abnormalities in brain development and function.
Fragile X syndrome causes mild to severe intellectual disability. It affects both males and females, but females usually have milder symptoms.
Symptoms include delays in talking, anxiety and hyperactive behaviour. Some people have seizures. Physical features might include large ears, a long face, a prominent jaw and forehead and flat feet.
Therapy can be used to treat learning disabilities. Medication may be used to treat anxiety and mood disorders.
It is a well known fact that Down Syndrome is an incurable but proper medication can improve health condition and life expectancy. Down Syndrome article covers topics like Symptoms, Causes, Meaning, Facts, Types, About, Features, Information, Life expectancy, etc.
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2. What is Progeria?
Progeria, also known as Hutchinson-Gilford Progeria Syndrome is a rare condition which
causes rapid aging in children.
It’s name derives from Greek progeros: pro meaning “before” or “premature” and geros
meaning “old age”.
The disease was first described in England by Dr. Jonathan Hutchinson and Dr. Hastings
Gilford.
3. How is it Caused?
According to The Progeria Research Foundation, Progeria is caused by a mutation of
LMNA gene. This gene is responsible for producing Lamin A protein, which holds the
nucleus of a cell together. It is now believed that the mutation of the LMNA gene causes
the cell instability of the nucleus, thus causing premature aging.
There are no known reasons for the development of the disease, it just randomly shows up.
Though it is extremely rare more than one child in a family may develop this disease.
5. When the Disease takes Place
Individuals who suffer from the disease a born relatively healthy and develop as any other
child does.
It is between the period between ages 1 and 2 that children with the disease start to display
signs of having the disease.
Symptoms include: hair loss, loss of body fat, failure to grow, aging of the skn,
atherosclerosis, dislocation of the hips, stiff joins, heart disease and stroke. All the signs of
aging in older adults.
6. Who gets Progeria
There is no specific or more susceptible geographic location in the world to have this
disease. Only about 1 child out of 4 million children worldwide. Approximately only 250
people suffer from Progeria at a time.
Anyone can get Progeria regardless of gender or race. Yet, strangely all those affected by
the disease share a similar appearance.
7. Prognosis of Progeria
Unfortunately there is no cure for Progeria, it lasts throughout the span of the child's life.
The disease is fatal and the life expectancy for children with the syndrome is late teens,
early 20s. It is degenerative and causes the body to age 8 times as fast as a normal person.
The most common cause of death is from heart disease due to buildup in the arteries.
8. Research and Treatment
Though there is no cure for Progeria much research is being done to find one. There are
still other methods used to ease the burden of living with the syndrome.
A lot of children have occupational and physical therapy to alleviate the stress on their on
joints and be as mobile and productive as possible.
Children also see their primary doctor and specialists to track their development and the
progression of the Progeria.
9. Conclusion
Progeria is an extremely rare, sadly fatal condition which causes rapid aging in children.
These children face a lot of adversity, but they can still lead very happy lives.
Progeria is something more people should be aware of to help find a cure for it and save
the lives of affected children everywhere.
10. References
Genetics Home Reference/ Hutchinson-Gilford progeria syndrome/
https://ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome
Hutchinson-Gilford Progeria is a Skeletal Dysplasia
http://onlinelibrary.wiley.com/doi/10.1002/jbmr.392/pdf
Progeria Research Foundation
http://www.progeriaresearch.org/about_progeria/
