Learn About Progeria

What is the definition of Progeria?

Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children and do not gain weight at the expected rate (failure to thrive). They develop a characteristic facial appearance including prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, and protruding ears. Hutchinson-Gilford progeria syndrome also causes hair loss (alopecia), aged-looking skin, joint abnormalities, and a loss of fat under the skin (subcutaneous fat). This condition does not affect intellectual development or the development of motor skills such as sitting, standing, and walking.

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What are the causes of Progeria?

Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome. The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within cells. It is an essential scaffolding (supporting) component of the nuclear envelope, which is the membrane that surrounds the nucleus. Mutations that cause Hutchinson-Gilford progeria syndrome result in the production of an abnormal version of the lamin A protein. The altered protein makes the nuclear envelope unstable and progressively damages the nucleus, making cells more likely to die prematurely. Researchers are working to determine how these changes lead to the characteristic features of Hutchinson-Gilford progeria syndrome.

How prevalent is Progeria?

This condition is very rare; it is reported to occur in 1 in 4 million newborns worldwide. More than 130 cases have been reported in the scientific literature since the condition was first described in 1886.

Is Progeria an inherited disorder?

Hutchinson-Gilford progeria syndrome is considered an autosomal dominant condition, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition results from new mutations in the LMNA gene, and almost always occurs in people with no history of the disorder in their family.

Who are the top Progeria Local Doctors?
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Division Of Renal Medicine And Baxter Novum

Huddinge, AB, SE 

Peter Stenvinkel is in Huddinge, Sweden. Stenvinkel is rated as an Elite expert by MediFind in the treatment of Progeria. He is also highly rated in 18 other conditions, according to our data. His top areas of expertise are Chronic Kidney Disease, Progeria, Calcinosis, and Malnutrition.

Elite
Highly rated in
12
conditions

Hôpitaux Universitaires De Strasbourg

Strasbourg, FR 67000

Vincent Laugel is in Strasbourg, France. Laugel is rated as an Elite expert by MediFind in the treatment of Progeria. He is also highly rated in 12 other conditions, according to our data. His top areas of expertise are Cockayne Syndrome Type 2, Cockayne Syndrome Type 1, Cockayne Syndrome, and Pena-Shokeir Syndrome Type 2.

 
 
 
 
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Elite
Highly rated in
22
conditions

Aix Marseille Univ

Marseille, FR 13005

Nicolas Levy is in Marseille, France. Levy is rated as an Elite expert by MediFind in the treatment of Progeria. He is also highly rated in 22 other conditions, according to our data. His top areas of expertise are Progeria, Miyoshi Myopathy, Limb-Girdle Muscular Dystrophy Type 2B, and Limb-Girdle Muscular Dystrophy.

What are the latest Progeria Clinical Trials?
The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network
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Development of Growth Curves in Cockayne Syndrome Type 1 and Type 2
Who are the sources who wrote this article ?

Published Date:updated Last, May

Published By: National Institutes of Health

What are the Latest Advances for Progeria?
The Potentials of Methylene Blue as an Anti-Aging Drug.
Impact of Progerin Expression on Adipogenesis in Hutchinson-Gilford Progeria Skin-Derived Precursor Cells.
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