Topics: Myocardial infarction, Progeria, Atherosclerosis Pages: 4 (1030 words) Published: December 6, 2013


Hutchinson-Gilford Syndrome

Progeria is a disease that produces rapid aging, beginning in childhood. Causes
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. A study from the Netherlands has shown an incidence of 1 in 4 million births. Currently, there are between 35 and 45 known cases in the world. Approximately 100 cases have been formally identified in medical history. Classical Hutchinson-Gilford Progeria Syndrome is almost never passed on from parent to child. It is usually caused by a new (sporadic) mutation during the early division of the cells in the child. It is usually genetically dominant; therefore, parents who are healthy will normally not pass it on to their children. Affected children rarely live long enough to have children themselves. There have been only two known cases in which it became evident that a healthy parent can carry the LMNA mutation that causes progeria. A family from India has five children with progeria; they were the subject of a 2005 Bodyshock documentary entitled The 80 Year Old Children. In the other case, a family from Belgium has two children with progeria. Symptoms of progeria include:Symptoms

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

Some exams and tests that can be run to determine if a child is diagnosed with progeria include:

Exams and Tests
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