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Progeria Overview
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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.
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.
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.
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.
Mats Eriksson practices practicing medicine in Oerebro, Sweden. Mr. Eriksson is rated as an Elite expert by MediFind in the treatment of Progeria. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Progeria, Gallstones, Transient Familial Hyperbilirubinemia, and Mosaicism.
Peter Stenvinkel practices practicing medicine in Stockholm, Sweden. Mr. Stenvinkel is rated as an Elite expert by MediFind in the treatment of Progeria. He is also highly rated in 21 other conditions, according to our data. His clinical expertise encompasses End-Stage Renal Disease (ESRD), Chronic Kidney Disease, Calcinosis, Kidney Transplant, and Parathyroidectomy.
Magda Hamczyk practices practicing medicine in Oviedo, Spain. Ms. Hamczyk is rated as an Elite expert by MediFind in the treatment of Progeria. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Progeria, Atherosclerosis, and Calcinosis.
Published Date: May 01, 2016
Published By: National Institutes of Health