What is Progeria
Progeria is a nickname given to a disease called Hutchinson-Gilford syndrome. It is an unique genetic disorder which ages kids in a very fast way during the first two years of their age.
Childrens who are suffering with progeria are normal during their birth. In the first year of their age, childrens are seen with symptoms like hair loss and slow growth
Such childrens die due to heart attack or strokes because of progeria. The life expectancy of such a child is less than 13 years. Some may die too young and some could live up to 20 years.
There is no cure available for this genetic disorder but few treatments are given as.
Symptoms of Progeria Disorder
In the first year of birth, the child seems as normal as other kids. The motor development and intelligence is similar to other regular kids.
The symptoms and signs of this progressive disorder are given as.
- Slow below average growth in terms of height and weight.
- Narrow face, small lower jaw, thin lips and beaked nose
- Head becomes large according to face size.
- Incomplete closure of eyelids and prominent eyes.
- Hair loss on head, eyelashes and eyebrows.
- Wrinkles on skin
- Visible veins
- Voice pitch increases
Few other symptoms given here are
- Serious heart problems like heart attack and stroke
- Skin hardening and tightens on trunk similar to scleroderma
- Abnormal & delayed Tooth formation
- Hearing Loss
- Fat Loss under skin and loss of muscle mass.
- Bones become loose and skeletal abnormalities
- Joints become stiff
- Hip dislocation
- Insulin resistance
When visiting a doctor is necessary
Progeria is usually detected in infancy or early childhood, often at regular checkups, when a baby first shows the characteristic signs of premature aging.
If a child is seen with any such signs of progeria, then you must visit a doctor and see if your child is growing with normal pace or not.
Causes of Progeria
Progeria is a single gene mutation problem. This gene is named as lamin A (LMNA) which makes it holding the nucleus of a cell together with a protein.
This gene is mutated and it is seen with an abnormal form of lamin A protein called porgerin. It makes our cells unstable. This creates a situation in the fast aging process.
In case of other genetic mutations, progeria is passed in families. This gene mutation is a rare occurrence in many kinds.
Other similar syndromes
These progeroid symptoms are seen in families. The inherited syndromes cause rapid aging in a very short life span.
- Wiedemann-Rautenstrauch syndrome:- It starts in the womb with other signs seen just after birth. It is also known as neonatal progeroid syndrome.
- Werner syndrome:- This begins in your teenage or early adult stages that causes aging and other old age problems like cataract and diabetes. It is known as adult progeria.
Risk Included in Progeria
There are no precautions which can prevent this genetic disorder. Change in lifestyle or environment won’t help in any way. It is an extremely rare disorder which modern medical science won’t help in any way.
Parents who have progeria history can have a great chance of giving your children the same problem. The chances upto 3%.
Complications in Progeria
Children who are suffering from this are seen with hardening in arteries. This condition stiffs the blood vessels and restricts the nutrients and oxygen to carry on the other end of the body. This creates uneven causes in the heart and other parts of the body.
Children who have progeria die due to the following reasons.
- Blood vessels hardening results in heart attack and heart failure due to restricted blood supply.
- The restricted blood supply in brain can be resulting stroke and other cerebrovascular problems.
Other health problems could be
- Rapid Aging
- Increase risk in cancer.
The detection of progeria is done on the basis of symptoms and few signs. The most confirmed way is to make a genetic test for LMNA mutations that confirms the progeria.
The test of progeria for a kid includes.
- Measurement of height and weight
- Measuring the normal growth curve chart
- Checking hearing and vision capacity
- Checking blood pressure and other signs of aging
- Other signs detected in new cases of progeria cases.
Treatment available in Progeria
There is no cure for progeria , but taking care of children helps in improving the condition of children.
Checking their heart and blood vessels is the main aspect to care upon.
The medical professional measures the height and weight of childrens and plots a chart of normal growth values. The other tests are electrocardiograms and dental, vision and hearing exams. Other tests are recommended by doctors based on its medical condition.
There are few therapies which delays the signs and symptoms of progeria. The treatment of a child is done on the basis of the child’s condition and severity of disease.
- Low-dose aspirin:- Aspirin prevents heart attack and strokes.
- Other medications:- Other medicines are given to kids to lower blood pressure, cholesterol and other anticoagulants , drugs to prevent any blood clots, headaches and seizures.
- Physical and occupational therapy:- This helps in stiff joints and let children be active in their physical movements.
- Nutrition:- Eating good food and supplements to maintain a healthy body.
- Dental care:- Dental care is must in case of progeria. A dentist must observe the kid to keep his gums healthy.
Future treatment Possible in Progeria
The research is in progress to understand the root cause of progeria and find the potential cure for the same. Some of the advancement done in the field are
- Deep studies are conducted in genes to understand the root cause. This will help in identifying the possibilities of treatment.
- Studies to prevent heart and blood vessels stiffness.
- Human trials are done with experimental drugs known as farnesyltransferase inhibitors (FTIs), such as lonafarnib. This is developed to treat cancer and is effective in weight gain and increasing flexibility of blood vessels.
- Few other medicines which are in development phase for progeria.
There are no fixed medications for this genetic disorder, so the drugs and medicines given in this disease are experimental and are tested in very few cases as available in the world.