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Hutchinson-Gilford Progeria Syndrome

Hutchinson-Gilford progeria syndrome facts*

*Hutchinson-Gilford progeria syndrome facts medical author:

  • Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic and rapid appearance of aging; symptoms begin in early childhood.
  • Signs and symptoms may include facial changes such as thin, beaked-tipped nose, a small chin, thin lips, protruding ears and prominent eyes; other non-facial features may include joint abnormalities, loss of fat under the skin, hair loss, and aged-looking skin but the child's intellect and motor skills are usually not altered.
  • Progeria syndrome is very rare; only about 130 individuals have been diagnosed since 1886.
  • Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome due to production of an abnormal lamin A protein.
  • People inherit the disease; only one copy of the LMNA gene is enough to cause the disease because it is an autosomal dominant gene.
  • Complications of progeria syndrome include severe hardening of the arteries beginning in childhood that markedly increase the chance of a heart attack or stroke at an early age (average life-span is about 13 years).
  • Hutchinson-Gilford progeria syndrome has several names in the literature (progeria, progeria of childhood, HGPS, and progeria syndrome); parents and others are urged to consult with a specialist in genetic diseases for additional information about diagnosis and treatments.

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Source: MedicineNet.com
http://www.medicinenet.com/progeria_syndrome/article.htm

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