About HGPS (Progeria Syndrome)
Learn about the disease, illness and/or condition HGPS (Progeria Syndrome) including: symptoms, causes, treatments, contraindications and conditions at ClusterMed.info.
HGPS (Progeria Syndrome)
HGPS (Progeria Syndrome) |
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HGPS (Progeria Syndrome) InformationHutchinson-Gilford progeria syndrome facts**Hutchinson-Gilford progeria syndrome facts medical author: Charles Patrick Davis, MD, PhD
How common is 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. How do people inherit Hutchinson-Gilford progeria syndrome?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. What are the characteristics, signs, and symptoms of Hutchinson-Gilford progeria syndrome?They develop a characteristic facial appearance including:
What are the complications and prognosis of people with Hutchinson-Gilford progeria syndrome?Experience severe hardening of the arteries (arteriosclerosis) beginning in childhood. This condition greatly increases the chances having a stroke at a young age. These serious complications can worsen over time and are life-threatening for affected individuals. What genes are related to Hutchinson-Gilford progeria syndrome?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. What is Hutchinson-Gilford progeria syndrome?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). What other names do people use for Hutchinson-Gilford progeria syndrome?
Where can I find additional information about Hutchinson-Gilford progeria syndrome?
Where can I find information about diagnosis, management, or treatment of Hutchinson-Gilford progeria syndrome?These resources address the diagnosis or management of Hutchinson-Gilford progeria syndrome and may include treatment providers.
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