Progeria - symptoms and signs






Progeria is a rare syndrome of accelerated aging, which manifests itself in early childhood and causes premature death of a child.


Progeria is caused by a sporadic mutation of an LMNA gene encoding a protein that provides for the formation of a cell nucleus membrane. A defective protein leads to instability of the nucleus from the moment of cell division and the early death of each cell in the body.


Symptoms and signs develop within 2 years and include physical retardation, craniofacial anomalies, and physical changes characteristic of aging. The diagnosis is usually obvious in appearance, but a differential diagnosis should be made with segmental progeria and other causes of delayed physical development. The average age at which patients die is 12 years; the cause is a lesion of the coronary arteries and cerebral vessels. For information: other problems that appear during normal aging are absent. Treatment is not developed.


Premature aging is part of other rare progeroid syndromes, including Werner's syndrome [premature aging after puberty, with hair becoming rare, other conditions characteristic of old age] and Rotmund-Thomson syndrome develop. Both of these syndromes are caused by gene mutations leading to the formation of defective RecQ DNA helicases, which are normally responsible for DNA repair. Co-kane syndrome is an autosomal recessive disorder that is caused by a mutation of the URCC8 gene, which plays an important role in the repair of DNA breaks. Clinical manifestations include severe physical retardation, cachexia, retinopathy, hypertension, renal failure, photosensitization, and mental retardation. Neonatal progeroid syndrome is a recessively inherited syndrome of aging, leading to death by 2 years. Other syndromes can also sometimes have progeroid traits.

Related News

Houseware for indoor plants
Top 10 tips on how to choose the closet
Plans for February 14 for couples who have everything difficult
One room apartment - we use space to the maximum
How to quickly learn to speak correctly and correctly
Brad Pitt and Jennifer Aniston will act in romkom