Hutchinson-Gilford Progeria Syndrome

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Hutchinson-Gilford Progeria Syndrome Hutchinson-Gilford progeria syndrome or HGPS is a rare genetic disorder that is known for accelerated appearance aging (progeria 101/faq). There have been fewer than 200 cases of HGPS since the discovery of this disorder (Pollex). Those with the disorder age up to five to eight times faster. Only some portions of old age are mimicked, those with progeria do not experience all the steps that come with old age (Agarwal). One in four million newborns are affected by this disorder (Pollex). There is a case in India where a family had five out of seven children affected with HGPS in one generation. The average age a child with progeria lives is thirteen; most deaths from progeria are caused by progressive atherosclerosis (Pollex). Atherosclerosis is heart disease. A case of Hutchinson-Gilford progeria syndrome or simply progeria was first reported in 1886 by Hutchinson. Gilford was the first to describe HGPS in 1904. Gilford later coined the syndrome with the term progeria (Agarwal). Progeria derives from the Greek word, gēras, which means old age (Pollex). The diagnosis of progeria is based upon physical appearance (Gulli). Since affected babies may appear normal at birth a diagnosis can't be made until the age of two (Livneh). A sign at the age of two may be changes in skin or growth failure (Gulli). The skeleton of one with progeria is often hypoplastic or, underdeveloped (Gulli). Commonly progeria is easily diagnosed by changes to or altered bone structure, joints and cartilage. (Gulli) In 2003, the gene that causes progeria was found and allows a proper diagnosis for progeria through the use of genetic testing (prf diagnostic). The gene that is responsible for progeria is LMNA, pronounced Lamin A (Pollex). Progeria is generally not inherited by ancestry because it occurs due to a sporadic mutation (Agarwal). According to

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