Progeria: The Science Behind Rapid Aging in Children
Overview
Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), is an extremely rare genetic disorder that causes children to age rapidly. Most children with Progeria appear normal at birth but begin to show signs of aging within the first two years of life.
Causes
Progeria is caused by a mutation in the LMNA gene, which produces lamin A, a protein that helps maintain cell structure. The mutation creates a defective protein called progerin, which leads to premature aging and cellular damage.
Symptoms
Growth delays and short stature
Loss of body fat and muscle
Prominent veins and tight, aged-looking skin
Stiff joints and hip dislocations
Cardiovascular disease, leading to strokes and heart attacks in early teens
Diagnosis
Doctors diagnose Progeria based on symptoms and confirm it with genetic testing for the LMNA mutation.
Treatment
There is no cure, but treatments aim to slow disease progression:
Lonafarnib (Zokinvy): A drug that reduces progerin buildup and extends lifespan by a few years
Heart medications to manage blood pressure and prevent heart disease
Physical therapy to maintain mobility and reduce joint stiffness
Surgery (bypass or stents) for severe cardiovascular complications
Life Expectancy and Outlook
Children with Progeria typically live 12 to 15 years, with heart disease being the leading cause of death. Advances in genetic research offer hope for future treatments.
Progeria: The Science Behind Rapid Aging in Children
Overview
Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), is an extremely rare genetic disorder that causes children to age rapidly. Most children with Progeria appear normal at birth but begin to show signs of aging within the first two years of life.
Causes
Progeria is caused by a mutation in the LMNA gene, which produces lamin A, a protein that helps maintain cell structure. The mutation creates a defective protein called progerin, which leads to premature aging and cellular damage.
Symptoms
Growth delays and short stature
Loss of body fat and muscle
Prominent veins and tight, aged-looking skin
Stiff joints and hip dislocations
Cardiovascular disease, leading to strokes and heart attacks in early teens
Diagnosis
Doctors diagnose Progeria based on symptoms and confirm it with genetic testing for the LMNA mutation.
Treatment
There is no cure, but treatments aim to slow disease progression:
Lonafarnib (Zokinvy): A drug that reduces progerin buildup and extends lifespan by a few years
Heart medications to manage blood pressure and prevent heart disease
Physical therapy to maintain mobility and reduce joint stiffness
Surgery (bypass or stents) for severe cardiovascular complications
Life Expectancy and Outlook
Children with Progeria typically live 12 to 15 years, with heart disease being the leading cause of death. Advances in genetic research offer hope for future treatments.
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