Progeria Syndrome : A Little Known Progressive Genetic Disorder

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Hutchinson-Gilford Progeria Syndrome a little known progressive genetic disorder commonly referred to as Progeria. This extremely rare, highly fatal, genetic disorder, comes from the Greek “progeros” meaning “prematurely aging” (Gale Encyclopedia, p. 2202). “Progeria”, named Hutchinson-Gilford Progeria Syndrome; HGPS for short, was first described in an academic journal by two English doctors, Dr. Jonathan Hutchinson in 1886, and Dr. Hastings Gilford in 1897. Although there are different forms of progeria, the classic type is Hutchinson-Gilford Progeria Syndrome.
Due to the rarity of this disorder a reported “1 in 8 million newborns are known to become affected” (Parker, 2004). With this knowledge, there is believed approximately less than four hundred known cases since its discovery over a hundred years ago to present. With this knowledge the Office of Rare Disease of the National Institute of Health has listed progeria as a “rare disease”. The truth behind these statistics are that many cases are undiagnosed and/or even misdiagnosed. Today, statistics show more children are born and diagnosed with progeria throughout the world. Within this paper the complexity of the disease, signs and symptoms, treatments, effects on the family and additional resources that may be available will be discussed.
Through different research and studies, it was found that Hutchinson-Gilford progeria’s main cause is a mutation of the single gene known as lamin A; (LMNA). The LMNA codes for the…

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