Progeria Syndrome : A Little Known Progressive Genetic Disorder
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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…