Progeria

Answer 1

Definition

Progeria is a disease that produces rapid aging, beginning in childhood.

Alternative Names

Hutchinson-Gilford syndrome

Causes, incidence, and risk factors

Progeria is a rare condition that is remarkable because its symptoms strongly resemble normal human aging, but occur in young children.

Ninety percent of children with progeria have a mutation on the gene that encodes the protein lamin A. Progeria usually occurs without cause. It is only very rarely seen in more than one child in a family.

Symptoms

• Growth failure during the first year of life
• Narrow, shrunken or wrinkled face
• Baldness
• Loss of eyebrows and eyelashes
• Short stature
• Large head for size of face (macrocephaly)
• Open soft spot (fontanelle)
• Small jaw (micrognathia)
• Dry, scaly, thin skin
• Limited range of motion
• Teeth - delayed or absent formation

Signs and tests

The signs include:

• Insulin-resistant diabetes (Diabetes that does not respond readily to insulin injections)
• Skin changes similar to that seen in scleroderma (the connective tissue becomes tough and hardened)

Cardiac stress testing may reveal signs of early atherosclerosis of blood vessels.

Genetic testing can detect mutations in lamin A that cause progeria.

Treatment

There is presently no treatment for progeria.

Support Groups

Progeria Research Foundation, Inc. -- www.progeriaresearch.org

Expectations (prognosis)

Progeria is associated with a short lifespan. The average patient survives to the early teens. However, some patients can live up to 30 years. The cause of death is usually related to the heart or a strokeas a result of the progressive atherosclerosis.

Complications

• Heart attack (myocardial infarction)
• Stroke

Calling your health care provider

Call for an appointment with your health care provider if you child does not appear to be growing or developing normally.

Prevention

There is no known prevention.

References

Brown WT. Progeria. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 90.

Answer 2

Definition

Progeria is a rare genetic condition that produces rapid aging in children.

Alternative Names

Hutchinson-Gilford progeria syndrome; HGPS

Causes, incidence, and risk factors

Progeria is a rare condition that is remarkable because its symptoms strongly resemble normal human aging, but occur in young children. It usually is not passed down through families. Rarely is it seen in more than one child in a family.

Symptoms

• Growth failure during the first year of life
• Narrow, shrunken or wrinkled face
• Baldness
• Loss of eyebrows and eyelashes
• Short stature
• Large head for size of face (macrocephaly)
• Open soft spot (fontanelle)
• Small jaw (micrognathia)
• Dry, scaly, thin skin
• Limited range of motion
• Teeth - delayed or absent formation

Signs and tests

The health care provider will perform a physical exam and order laboratory tests. This may show:

• Insulin resistance
• Skin changes similar to that seen in scleroderma (the connective tissue becomes tough and hardened)

Cardiac stress testing may reveal signs of early atherosclerosis of blood vessels.

Genetic testing can detect changes in the gene that causes progeria.

Treatment

There is no specific treatment for progeria.

Support Groups

Progeria Research Foundation, Inc. -- www.progeriaresearch.org

Expectations (prognosis)

Progeria causes early death. Patients usually only live to their teenage years. However, some patients can live into their early 20s. The cause of death is usually related to the heart or a stroke.

Complications

• Heart attack (myocardial infarction)
• Stroke

Calling your health care provider

Call for an appointment with your health care provider if your child does not appear to be growing or developing normally.

References

Brown WT. Progeria. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 90.

Reviewed By

Review Date: 08/04/2011

Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Answer 3

Progeria is a rare genetic condition characterized by accelerated aging in children. It is caused by a mutation in the LMNA gene, leading to premature aging symptoms such as growth failure, loss of body fat and hair, and cardiovascular issues. There is currently no cure for progeria, and treatment focuses on managing symptoms and improving quality of life.