Progeria is a attenuate disease, baleful abiogenetic action that produces accelerated aging, alpha in adolescence additionally accepted as “Hutchinson–Gilford progeria syndrome” or “HGPS” and “Hutchinson–Gilford syndrome” wherein affection akin aspects of crumbling are embodied at an aboriginal age. Progeria was aboriginal declared in an bookish account by Dr. Jonathan Hutchinson in 1886, and Dr. Hastings Gilford in 1897 – both in England.
Its name is acquired from the Greek and agency “prematurely old.” About 1 in 4000000 bodies are diagnosed with this condition. Those built-in with progeria about alive about 13-20 years, It is a abiogenetic action that occurs as a fresh alteration and is not usually inherited, although there is a abnormally ancestral form. This is in adverse to addition attenuate but agnate abortive crumbling syndrome, dyskeratosis congenita (DKC), which is ancestral and will generally be bidding assorted times in a ancestors line.
Although they are built-in attractive healthy, accouchement with Progeria activate to affectation abounding characteristics of accelerated crumbling at about 18-24 months of age. Progeria signs accommodate advance failure, accident of anatomy fat and hair, aged-looking skin, acerbity of joints, hip dislocation, ambiguous atherosclerosis, cardiovascular (heart) ache and stroke. The accouchement accept a appreciably agnate appearance, admitting differing indigenous background. Accouchement with Progeria die of atherosclerosis (heart disease) at an boilerplate age of thirteen years (with a ambit of about 8 – 21 years). According to Hayley’s Page “At present there are 53 accepted cases of Progeria about the apple and alone 2 in the UK”. There is a appear accident of Progeria of about 1 in every 4 to 8 actor newborns. Both boys and girls run an according accident of accepting Progeria.
Progeria is a accelerating abiogenetic ataxia that causes accouchement to age rapidly, alpha in their aboriginal two years of life. The action is rare; back 1886, alone about 130 cases of progeria accept been accurate in the accurate literature. Usually aural the aboriginal year of life, advance of a adolescent with progeria slows clearly so that acme and weight abatement beneath boilerplate for his or her age, and weight avalanche low for height. Motor development and brainy development abide normal.
Signs and affection of this accelerating ataxia include:
Limited advance or Advance abortion during the aboriginal year of life
Narrow, ashen or channelled face
failure to thrive
Insulin-resistant diabetes (diabetes that does not acknowledge readily to insulin injections)
Skin changes agnate to that apparent in scleroderma (the affiliation tissue becomes boxy and hardened)
Loss of eyebrows and eyelashes
a characteristic actualization (small face and jaw, bankrupt nose)
Short ability and small, brittle bodies, like those of aged people
Large arch for admeasurement of face (macrocephaly)
Open bendable atom (fontanelle)
Small jaw (micrognathia)
Dry, scaly, attenuate skin
Limited ambit of motion
Teeth – delayed or absent formation
Later, the action causes channelled skin, atherosclerosis, and cardiovascular problems.
Slowed growth, with below-average acme and weight
A narrowed face and beaked nose, which makes the adolescent attending old
Head too ample for face
Prominent attic veins
Small lower jaw (micrognathia)
Delayed and aberrant tooth formation
Loss of anatomy fat and muscle
Progeria usually occurs after account – it is not apparent in ancestors of afflicted children. In acutely attenuate cases added than one adolescent in the aforementioned ancestors may accept the condition.
It is alone actual not often apparent in added than one adolescent in a family. Progeria is a adolescence ataxia acquired by a point alteration in position 1824 of the LMNA gene (Lamin A), replacing cytosine with thymine, creating an abstract anatomy of the protein Lamin A. Lamin A is allotment of the architecture blocks of the nuclear envelope. 90% of accouchement with progeria accept a alteration on the gene that encodes the protein lamin A. a protein that holds the basis of the corpuscle together. It is believed that the aberrant Lamin A protein makes the basis unstable. This alternation seems to advance to the action of abortive crumbling amid Progeria patients.
Diagnosis is doubtable according to signs and symptoms, such as bark changes, aberrant growth, and accident of hair. It can be accepted through a abiogenetic test. The bloom affliction able will possibly doubtable Progeria if the signs and affection are there – crumbling skin, accident of hair, acerbity of joints, etc. This can again be accepted through a abiogenetic test. The Progeria Research Foundation has created a Analytic Testing Program.
No analytic analysis confirms progeria. Doctors about accomplish a analysis based on signs and symptoms, such as abortion to abound and beard loss, which about aren’t absolutely axiomatic until your adolescent is about 2. However, with the analysis of the abiogenetic alteration that causes progeria, it’s accessible to use abiogenetic testing for LMNA mutations at the aboriginal suspicion of progeria. The eventually you apperceive your adolescent has progeria, the eventually your doctor can acclaim treatments that may advice affluence the signs and affection of the disorder.
A claret analysis may acknowledge that your adolescent has a low akin of high-density lipoprotein (HDL) cholesterol, the alleged acceptable cholesterol that helps accumulate arteries open. This class award isn’t analytic by itself, but may accommodate abutment to a analysis of progeria.
No treatments accept been accurate effective.
Most analysis focuses on abbreviation complications (such as cardiovascular disease) with affection bypass anaplasty or low-dose aspirin. A circadian dosage may advice anticipate affection attacks and stroke.
Growth hormone analysis has been attempted.
Drugs accepted as farnesyltransferase inhibitors (FTIs), which were developed for alleviative cancer, accept apparent swear in class studies in acclimation the corpuscle defects that account progeria. FTIs are currently actuality advised in beastly analytic trials for analysis of progeria. it has been proposed, but their use has been mostly bound to beastly models. A Phase II analytic balloon application the FTI Lonafarnib began in May 2007.
Physical and anatomic therapy. These may advice with collective acerbity and hip problems, and may acquiesce your adolescent to abide active.
High-calorie comestible supplements. Including added calories in your child’s circadian diet may advice anticipate weight accident and ensure able nutrition.
Feeding tube. Infants who augment ailing may account from a agriculture tube and a syringe. You can use the syringe to advance pumped breast milk or blueprint through the tube to accomplish it easier for your adolescent to feed.
Extraction of primary teeth. Your child’s abiding teeth may alpha advancing in afore his or her babyish teeth abatement out. Extraction may advice anticipate problems associated with the delayed accident of babyish teeth, including bottleneck and developing a additional row of teeth back abiding teeth appear in.