Hutchinson Gilford Progeria Syndrome Summary

Progeria, also known as Hutchinson Gilford Progeria Syndrome, and Progeria syndrome, is an extremely rare genetic disease wherein symptoms resembling aspects of aging are manifested at a very early age. The Progeria come from the Greek words “pro” meaning “before” and “gēras” meaning “old age”. The disorder has a very low incident rate, occurring in an estimated 1 per 8 million live births. Those born with Progeria typically live to their mid teens and early twenties. It is a genetic condition that occurs as a new mutation, and is rarely inherited. Although the term Progeria applies strictly to all diseases characterized by premature aging symptoms, and is often used as

Harlequin Ichthyosis, also known as Harlequin syndrome, is a rare genetic skin disorder where the epidermis layer of thin skin is thicker than normal. This disorder is present at birth and is not gender specific. Someone with the disorder would receive a mutated version of the ABCA12 gene from both parents; however, the parents show no signs or symptoms of this genetic mutation. The gene, where the mutation is found present, is responsible for making proteins that are used in the process of normal skin cell development. Because of the mutation, the epidermis endures abnormal development and hard, thick plates of skin are produced.

Progeria is a disease of children that produces rapid aging. The exact cause of progeria is

Progeria is the World’s leading cause of children death because, Progeria is a fast-paced disease the disease has many symptoms and signs, and the treatments are very minimal. This disease is the saddest disease i have seen or heard of in years.

According to Mayo clinic Progeria also known as Hutchinson-Gilford syndrome, is an extremely rare, progressive genetic disorder that causes children to age rapidly, starting in their first two years of life. Children with progeria generally appear

According to the Sturge-Weber Foundations, Sturge-Weber Syndrome can be diagnosed once the baby is born. With the most obvious characteristics, the baby will have a dark purple birthmark that covers close to half of his/her face. Another symptom from Sturge-Weber Syndrome is that it can cause neurological deformity. Both of these symptoms are caused by the abnormal blood vessels near the eye and on the surface of the brain. Studies have shown that this syndrome is not passed from family history, but the only remedy we can do is to suppress it (Sturge-Weber.org).

Progeria is a fatal genetic condition characterized by an appearance of accelerated aging children. There are different types of Progeria but the classic type is Hutchinson-Gilford Progeria Syndrome. Progeria means “prematurely old.” The scientific name for the genetic mutation is Hutchinson-Gilford syndrome, but is known as Progeria or HGPS. HGPS is caused by a mutation of the LMNA gene. The LMNA gene produces the Lamin A protein, which holds the nucleus together, Researchers say that Lamin A protein makes the nucleus unstable which leads to aging in Progeria. The symptoms of Progeria in the skin are wrinkles or dryness. Some common symptoms of Progeria are hair loss, delayed tooth development, enlarged head, high-pitched voice, loss of muscle,

According to professor Oliver Sacks the Korsakoff syndrome is a preventable memory disorder that usually develops; although not always, in the result of an episode of neurological disorder. The present paper reviews the studies and reflections on how this specific neurological disorder affects the self and the human condition. However, professor Sacks aims to fill the gap on how a Korsakoff‘s patient develops the syndrome differently than others. The characteristic that patients developed includes total loss of inner reality, of feeling and meaning, of soul, high fever, raved and ceased to recognize all their families. He analyses the factors that help explain how all Korsakoff patients are capable of new learning, particularly if they live in a calm and how are their reactions on a well-structured

Hutchinson Gilford Progeria syndrome (HGPS) is a very rare and destructive genetic disorder. It is progressive, causing children to age rapidly beginning 2 years after birth. Children with Progeria usually appear normal at birth, however by 1 year the signs and symptoms of Progeria begin. Symptoms of Progeria include short stature, bulging eyes, micrognathia, disproportion of head to body, alopecia, beaked nose, pathologic bone fractures, hearing loss, photophobia and hypertension. (Alves and others 2014) Progeria’s occurrence is 1 in 4 million to 1 in 8 million live births and males are more frequently affected than females. The average life expectancy for a child with Progeria is about 13. (King 2013) However some with the disease die younger and some live to be 20 years or older. Death in Progeria is primarily caused by heart attacks and atherosclerosis. Atherosclerosis is a disease in which the arteries become hardened. (Bhimji 2011)

Progeria is a rare genetic disease that happens 1 in 20 million births. Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome. The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within

DiGeorge Syndrome is a chromosomal disorder caused by a defect in chromosome 22. The syndrome can cause heart defects which then leads to a poor immune system function and while that’s occurring it gives low levels of calcium in the blood. The syndrome also causes altered facial characteristics. There is no known cure but calcium acetate by injection or by mouth. Nothing contributes to the disease. What it is like to live with the disorder is having low-set ears, speech impairment, cleft lip and cleft palate, difficulty thinking and understanding, frequent infections, hearing loss can occur and your body will have hyperactivity, nasal voice, or wide spaced eyes. The syndrome is rare only fewer than 200,000 us cases per year. Mostly affected

Allan-Herndon-Dudley syndrome (AHDS) is a rare disorder of brain development that causes severe intellectual disabilities and problems with locomotion. AHDS occurs exclusively in males disrupting development from before birth being a psychomotor retardation characterized by neurological impairment and abnormal thyroid hormone (TH) levels. Past research has shown that mutations in the TH transporter monocarboxylate transporter 8 (MCT8) are associated with AHDS with MCT8 knockout mice exhibiting impaired TH levels but lacking neurological defects. However the Zebrafish mct8 gene and promoter were isolated and promoter-driven transgenic lines were constructed to resolve that mct8 is primarily expressed in the vascular and nervous system similar

Hutchinson-Gilford progeria syndrome was first reported by a man named Dr. Jonathan Hutchinson in 1886 (Gordon, Rothman, Lόpez-Otin, & Misteli, 2014). In 1904, Hastings Gilford further expanded on Hutchinson’s work. Both men contributed greatly to reporting, researching, and contributing to the knowledge of this disease and it was thus named Hutchinson Gilford progeria syndrome, or HGPS for short (Gordon, et al., 2014; Gordon, Brown, & Collins, 2015). The syndrome’s name – progeria – derives from the Greek language: pro meaning “before” and geron commonly meaning “old person” or “old age” and together meaning “prematurely old” (Coutinho, Falcᾶo-Silva, Goncalves, & da Nόbrega, 2009; Pollex & Hegele, 2004; Gordon et al, 2014; Tsiligirl, Fekos, Theodoridou, & Lavdaniti, 2015)

Progeria is not inherited within families, yet it is a gene change that can occur between a single sperm or egg before conception. However, there are two inherited syndromes are similar to progeria that cause rapid growth and can result in death at an early age: Wiedemann-Rautenstrauch syndrome and Werner syndrome. Weidermann-Rautenstrauch syndrome starts in the womb, and shows sign of aging from birth; while Werner syndrome happens in the teens years or early adulthood, and shows signs of premature aging and health conditions that old people usually have such as diabetes (Mayo Clinic, 2014). Werner syndrome is caused by a recessive mutation in the Werner syndrome, RecQ helicase like (WRN) gene. Mutation in the WRN can cause symptoms in humans

Progeria is a rare genetic disorder causing one to age rapidly. It was founded in 1886 and in 1897 by doctors in England by the names of Dr. Hutchinson and Dr. Hastings Gilford. Hence the doctors that founded it, it also goes by the name Hutchinson-Gilford Progeria Syndrome. This disease is quite rare and only affects about 1 in 20 million people in the world. Most children diagnosed with progeria often die of complications like atherosclerosis, which is a buildup of plaque against artery walls that causes tearing of the blood vessels. When a child is born, the parents cannot necessarily tell their child has progeria. The characteristics are typically reflected within the first two years and then that child is diagnosed with