Progeria – Pictures, Symptoms, Causes, Treatment, Diagnosis
This is a genetic condition which is progressive and causes children to quickly age, starting in the 2 years in the beginning of life. This problem is extremely rare; in fact since 1886, there have been only 130 recorded cases in the medical literature. This disorder is also identified as Hutchinson-Gilford progeria syndrome.
Children with this condition, typically appear normal at birth. But by the age of 1, symptoms and signs, like changes in skin as well as loss of hair, start to develop. The life expectancy of a child with this disorder averages 13 years of age, but many with this problem usually die much younger and in some cases they can live to be 20 years old or even longer.
Stroke or problems with the heart is the usual reason for death in the majority of these children.
During the 1st year, the growth of any child with progeria begins to slow significantly and the weight as well as the height falls below normal for her/his age. The weight will fall low for height. Development of motor skills as well as mental growth will stay normal.
Symptoms and signs of this progressive condition include:
It is important to see your child’s doctor if your child does not seem to be developing or growing normally, or has problems with loss of hair, changes in the skin or growth which is slowed.
The children with progeria normally develop atherosclerosis which is very severe. This is where the walls of the arteries, become stiff and thick, and begin to restrict the flow of blood. Many of these children die from the complications which are usually related to atherosclerosis, including:
Common signs of aging which occur less but can affect a child with progeria include:
Other problems with health that are linked to aging – for instance near-sightedness, Alzheimer’s disease, osteoarthritis – don’t develop as part of the aging process with progeria.
Scientists have revealed a single mutated gene to be the cause for Hutchison-Gilford progeria syndrome. This gene is referred to as lamin A or LMNA and it makes a protein which is needed to hold the nucleous of a cell together. These scientists believe that the mutation of this gene causes cells to be unstable and leads to progeria’s characteristic process of aging.
There is no test to confirm progeria and no cure. Physicians normally make the diagnosis based on symptoms and signs – such as hair loss as well as not growing. These are normally not fully evident until about the age of 2.
http://www.Symptoms-Causes-treatment.blogspot.com detect diseases at an early stage symptoms, and find out the causes and treatments best suited.
But, since the detection of the mutation of progeria, it is conceivable to use genetic testing for the LMNA mutations immediately if there is the suspicion of progeria. It stands to reason that the sooner the diagnosis is confirmed, the sooner the medical staff can begin treatments which can help to ease the symptoms as well as the signs of this disorder.
Another test using blood can reveal whether the child has a low level of high-density lipoprotein or HDL cholesterol, or the good cholesterol which helps keep the arteries open. The find is not diagnostic alone but can give support to a diagnosis of progeria.
As already stated, there is no cure for progeria. But there is management which can prolong the child’s life. The regular checking for cardiovascular disease can aid with managing this condition. In some cases, the child may experience bypass surgery for coronary arteries or angioplasty which is the expansion of cardiac arteries in order to slow the progress of cardiovascular disease.
Some therapies can help with the management of symptoms and signs. These include:
Aspirin in low dose
A daily dose to help with the prevention of stroke and heart attacks.
High-calorie supplements for diet
Including extra calories in the child’s daily diet can help in preventing loss of weight as well as ensure nutrition is adequate.
Occupational and physical therapy
These can aid stiffness in the joints and any problems with hips, and can allow the child to stay active.
Tubes for feeding
Infants who are feeding poorly can be helped with a feeding tube as well as a syringe. The syringe is used to push formula or breast milk thru the tube in order to make it much easier to feed the child.
Primary teeth extraction
The child’s permanent teeth will start to come in prior to his or her baby teeth falling out, therefore extraction can help stop any problems linked with the delay in losing baby teeth, such as developing a 2nd row of teeth or overcrowding when permanent teeth grow in.
What is Progeria?
This is a genetic condition which is progressive and causes children to quickly age, starting in the 2 years in the beginning of life. This problem is extremely rare; in fact since 1886, there have been only 130 recorded cases in the medical literature. This disorder is also identified as Hutchinson-Gilford progeria syndrome.
Children with this condition, typically appear normal at birth. But by the age of 1, symptoms and signs, like changes in skin as well as loss of hair, start to develop. The life expectancy of a child with this disorder averages 13 years of age, but many with this problem usually die much younger and in some cases they can live to be 20 years old or even longer.
Stroke or problems with the heart is the usual reason for death in the majority of these children.
Progeria Symptoms
During the 1st year, the growth of any child with progeria begins to slow significantly and the weight as well as the height falls below normal for her/his age. The weight will fall low for height. Development of motor skills as well as mental growth will stay normal.
Symptoms and signs of this progressive condition include:
- Growth slows, with below average weight and height
- Beaked nose and narrowing face that makes the child look old
- Alopecia or hair loss which includes eyebrows as well as eyelashes
- Tightening and hardening of skin on trunk and extremities – known as scleroderma
- Aged looking skin which is loose
- Scalp veins which are prominent
- Head too large for face
- Eyes which are prominent
- Micrognathia or small lower jaw
- Voice which is high-pitched
- Abnormal and delayed formation of teeth
- Loss of muscle and body fat
- Stiff joints
- Hip dislocation
It is important to see your child’s doctor if your child does not seem to be developing or growing normally, or has problems with loss of hair, changes in the skin or growth which is slowed.
The children with progeria normally develop atherosclerosis which is very severe. This is where the walls of the arteries, become stiff and thick, and begin to restrict the flow of blood. Many of these children die from the complications which are usually related to atherosclerosis, including:
- Cardiovascular problems which cause heart attacks as well as congestive heart failure
- Cerebrovascular problems which result in stroke
Common signs of aging which occur less but can affect a child with progeria include:
- Cataracts
- Insulin resistance
- Tumors
Other problems with health that are linked to aging – for instance near-sightedness, Alzheimer’s disease, osteoarthritis – don’t develop as part of the aging process with progeria.
Progeria Causes
Scientists have revealed a single mutated gene to be the cause for Hutchison-Gilford progeria syndrome. This gene is referred to as lamin A or LMNA and it makes a protein which is needed to hold the nucleous of a cell together. These scientists believe that the mutation of this gene causes cells to be unstable and leads to progeria’s characteristic process of aging.
Progeria Treatment
There is no test to confirm progeria and no cure. Physicians normally make the diagnosis based on symptoms and signs – such as hair loss as well as not growing. These are normally not fully evident until about the age of 2.
http://www.Symptoms-Causes-treatment.blogspot.com detect diseases at an early stage symptoms, and find out the causes and treatments best suited.
But, since the detection of the mutation of progeria, it is conceivable to use genetic testing for the LMNA mutations immediately if there is the suspicion of progeria. It stands to reason that the sooner the diagnosis is confirmed, the sooner the medical staff can begin treatments which can help to ease the symptoms as well as the signs of this disorder.
Another test using blood can reveal whether the child has a low level of high-density lipoprotein or HDL cholesterol, or the good cholesterol which helps keep the arteries open. The find is not diagnostic alone but can give support to a diagnosis of progeria.
As already stated, there is no cure for progeria. But there is management which can prolong the child’s life. The regular checking for cardiovascular disease can aid with managing this condition. In some cases, the child may experience bypass surgery for coronary arteries or angioplasty which is the expansion of cardiac arteries in order to slow the progress of cardiovascular disease.
Some therapies can help with the management of symptoms and signs. These include:
Aspirin in low dose
A daily dose to help with the prevention of stroke and heart attacks.
High-calorie supplements for diet
Including extra calories in the child’s daily diet can help in preventing loss of weight as well as ensure nutrition is adequate.
Occupational and physical therapy
These can aid stiffness in the joints and any problems with hips, and can allow the child to stay active.
Tubes for feeding
Infants who are feeding poorly can be helped with a feeding tube as well as a syringe. The syringe is used to push formula or breast milk thru the tube in order to make it much easier to feed the child.
Primary teeth extraction
The child’s permanent teeth will start to come in prior to his or her baby teeth falling out, therefore extraction can help stop any problems linked with the delay in losing baby teeth, such as developing a 2nd row of teeth or overcrowding when permanent teeth grow in.
Progeria Pictures
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