Hutchinson-Gilford syndrome - progeria - презентация

1 Kruglova Anna Andreevna, OMP-104.

2 Progeria is a rare and fatal congenital disorder marked by physical symptoms resembling that of aging but having early onset in childhood. Frequency of occurrence of about 1 in 4 – 8 million newborns.

3 Cause Point mutation in the LMNA gene that encodes the protein Lamina A which is a part of the building blocks of nuclear envelope. Hence, the production of abnormal Lamina A proteins leads to premature death of cells. It is not inherited but it is almost always a chance occurrence that is extremely rare.

4 Werner s syndrome Cockayne s syndrome Xeroderma pigmentosum Scleroderma

5 Growth failure during the first year of life beak-shaped nose Alopecia Swollen and stiff joints Dwarfism and mental retardation

6 macrocephaly Micrognathia dental abnormalities narrow chest Skeletal defects with limited range of motion Atherosclerosis and cardiac problems Swollen veins Age spots

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9 On the basis of above signs and symptoms Blood test revealing low level of High Density Lipoprotein (HDL)

10 Confirmed through genetic tests Earlier the diagnosis is made, treatment can be commenced to ease the signs and symptoms and prevent the possible complications like heart attack and stroke.

11 Artery bypass surgery or angioplasty. Low dose aspirin. High calorie diet. Growth hormone therapy. Physical and occupational therapy. Infants who feed poorly may benefit from a feeding tube and a syringe.

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15 Average age of 13 years with a range of about 8 – 21 years (death due to atherosclerosis). Life span