Progeria is an extremely rare genetic disease that rapidly ages a person, beginning in early childhood. Progeria is not curable and results in serious atherosclerosis, which leads to heart disease or stroke. Progeria is eventually fatal. Life expectancy for a child with progeria is about 13 years, although some children live longer to about 20 years.
Progeria is also known as Hutchinson-Gilford progeria syndrome, Hutchinson-Gilford syndrome, or HGPS. It is caused by a mutation in the LMNA gene, which results in an abnormal production of a certain protein. This abnormal protein makes it more likely that the cells of the body will die prematurely.
Children with progeria generally look normal at birth. By about two years of age, infants with progeria experience a failure to thrive, which includes slow growth and poor weight gain. Other symptoms include loss of body fat, loss of hair (alopecia), aged-looking skin, stiffness of joints, joint abnormalities and hip dislocation. For more details on symptoms and complications, refer to symptoms of progeria.
Making a diagnosis of progeria includes taking a thorough personal and family history, including symptoms, such as poor growth and weight gain, and completing a physical examination.
There is no specific diagnostic test to test for progeria. Diagnosis is made on the basis of typical symptoms, such as failure to thrive and hair loss by age two.
Testing might be done to help in making a diagnosis of progeria and to assess for the potential for developing atherosclerosis during early childhood, a typical characteristic of progeria. Testing might include a HDL blood test, which can reveal a low level of high-density lipoprotein (HDL) cholesterol, the "good" cholesterol that helps keep arteries open.
It is possible that a diagnosis of progeria can be missed or delayed because it is extremely rare. For more information on misdiagnosis, refer to misdiagnosis of progeria.
Progeria is not curable at this time. However, regular medical care can help to slow the advancement of the disease and minimize symptoms. These can include medications, physical therapy, surgery and nutritional supplements. For more information on treatment, refer to treatment of progeria. ...more »
Progeria: A rare fatal genetic disorder characterized by extremely premature aging.
More detailed information about the symptoms,
causes, and treatments of Progeria is available below.
Progeria is a disease that causes the rapid, early aging of the body. Infants born with progeria appear to be normal newborns, and symptoms generally do not occur until about two years of age. Symptoms include failure to thrive, which includes slow growth and poor weight gain, loss of body fat and aged-looking skin. Symptoms also include stiffness of joints, joint ...more symptoms »
There is no way to prevent progeria, and there are currently no treatments that can cure progeria. However, regular medical care and certain treatments may help to reduce some symptoms and slow progression of the disease.
The care of people with progeria is aimed at minimizing symptoms and maximizing the quality of life as much as possible. Treatment plans are individualized and may ...more treatments »
A diagnosis of progeria may be delayed or missed because it is very rare. In addition, symptoms of progeria may initially mimic symptoms of a variety of more common diseases, disorders or conditions that can also cause poor growth and failure to thrive. These include child neglect, child abuse, poor feeding, GERD, malnutrition, cystic fibrosis, parasite infection, and ...more misdiagnosis »
Symptoms of Progeria
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symptoms of Progeria
Wrongly Diagnosed with Progeria?
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Causes of Progeria
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causes of Progeria
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Disease Topics Related To Progeria
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Research about Progeria
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Clinical Trials for Progeria
The US based website ClinicalTrials.gov lists information on both federally
and privately supported clinical trials using human volunteers.
Some of the clinical trials listed on ClinicalTrials.gov for Progeria include:
Read more about Clinical Trials for Progeria
Statistics for Progeria
Progeria: Broader Related Topics
Types of Progeria
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Definitions of Progeria:
Changes in the organism associated with senescence, occurring at an accelerated rate.
- (Source - Diseases Database)
A rare abnormality marked by premature aging (gray hair and wrinkled skin and stooped posture) in a child
- (Source - WordNet 2.1)
Progeria is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Progeria, or a subtype of Progeria,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Progeria as a "rare disease".
Source - Orphanet
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