Read more about this disease, some with Classification – Types – Signs and symptoms – Genetics – Pathophysiology – Diagnosis – Screening – Prevention – Treatment and management – Cures and much more, some including pictures and video when available.
Progeria is an extremely rare genetic condition where symptoms resembling aspects of aging are manifested at an early age. About 1 in 8 million babies are born with this condition, and most affected children usually die at around 13, although many have been known to live into their late teens and early twenties. It is a genetic condition, but occurs as a new mutation (sporadically) and is not usually inherited, although there is one unique form of the condition identified in only one family in the world that is inherited from parents who carry the protein genetically. In this case, five children in the family had the condition.
Scientists are particularly interested in progeria because it might reveal clues about the normal process of aging.[1][2][3]
The earliest symptoms include failure to thrive and a localized scleroderma like skin condition. As the child ages past infancy, additional conditions become apparent. Limited growth, alopecia, and a distinctive appearance (small face and jaw, pinched nose) are all characteristic of progeria. The people diagnosed with this disease usually have small, fragile bodies, like those of elderly people.
Later, the condition causes wrinkled skin, atherosclerosis, and cardiovascular problems.
Hutchinson-Gilford Progeria Syndrome (HGPS) is a childhood disorder caused by mutations in one of the major architectural proteins of the cell nucleus.
Unlike most other “accelerated aging diseases” (such as Werner’s syndrome, Cockayne’s syndrome, or xeroderma pigmentosum), progeria is not caused by defective DNA repair. Because these “accelerated aging” diseases display different aspects of aging but never every aspect, they are often called “segmental progerias.”
Diagnosis is suspected according to signs and symptoms, such as skin changes, abnormal growth, and loss of hair. It can be confirmed through a genetic test.[4]
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