Progeria

June 17, 2021Articles39

Progeria is a rare genetic condition that causes a person to age prematurely. There are different types of Progeria, but the classic type is known as Hutchinson-Gilford progeria syndrome (HGPS).
Children with progeria appear healthy, but by the age of 2yrs, they look as if they have become old too fast.

Children with this condition live on average for 14 years, because of the likelihood of developing atherosclerosis.
Epidemiology –
Around the world, 134 Children are thought to have progeria across 46 countries. It is believed 1 in every 4 million newborns of both sexes and all ethnicities.
Symptoms-
Usually, within the first year of life, the growth of a child with progeria slows markedly, but motor development and intelligence remain normal.

*Signs and symptoms of this progressive disorder include a distinctive appearance-
1• Head disproportionately large for the face
2• Narrowed face, small lower jaw, thin lips, and beaked nose
3• Slowed growth, with below-average height and weight
4• Prominent eyes and incomplete closure of the eyelids
5• High-pitched voice
6• Thinning, spotty, wrinkled skin
7• Hair loss, including eyelashes and eyebrows
8• Visible veins
* Sign and symptoms also include health issues-
9• Severe progressive heart and blood vessel disease
10• Hardening and tightening of the skin in the trunk and extremities (similar to scleroderma)
11• Loss of fat under the skin and loss of muscle mass
13• Skeletal abnormalities and fragile bones
14• Delayed and abnormal tooth formation
15• Stiff joints
16• Hip dislocation
17• Insulin resistance
18• Some hearing loss
Other similar syndromes-
There are other progeroid syndromes that do run in families. These inherited syndromes cause rapid aging and a shortened life span.
•Wiedemann – Rautenstrauch syndrome –
This syndrome is also known as a neonatal progeroid syndrome. It starts in the womb, along with signs and symptoms of aging apparent at birth.
• Werner syndrome –
It is also known as adult progeria. It begins in the teen years or early adulthood.

Along with this, it causes premature aging and conditions typical of old age, such as cataracts and diabetes.

Causes-
• Progeria a genetic condition-
* Most children with progeria have a mutation on the gene that encodes for lamin A. It is a protein that holds the nucleus of the cell together. This protein is also known as progerin.
* The defective protein ultimately makes the nucleus unstable. This instability makes cells more likely to die younger, finally leading to the symptoms of progeria.
* It is believed to happen because of a rare genetic change. One parent may have the mutation, even though they do not have progeria.
* There is not usually any family history, but in contrast, if there is already one child in the family with progeria, there is a 2-3% chance that another sibling will have it.
Risk factors –
There are no known factors, which increase the risk of progeria. Progeria is extremely rare.
In addition to this, for parents who have had one child with progeria, the chances of having a second child with progeria one about 2 to 3 percent.
Complications –
Children with progeria usually develop severe hardening of the arteries (atherosclerosis).

This is a condition in which the walls of the arteries- blood vessels that carry nutrients and oxygen from the heart to the rest of the body- stiffen and thicken, often restricting blood flow.
Most children with progeria die of complications related to atherosclerosis, including –
• Heart attack and congestive heart failure due to restricted blood supply to the heart
• Stroke due to the restricted blood supply to the brain
Diagnosis-
A doctor may suspect Progeria by observing the signs and symptoms of this syndrome.
A thorough physical examination of your child includes –
1• Measuring height and weight
2• Testing hearing and vision
3• Measuring vital signs, including blood pressure
4• Look for visible signs and symptoms typically for progeria
A genetic test for LMNA mutations can confirm the diagnosis of progeria.
Treatment-
There’s no cure for progeria, whereas regular monitoring for heart and blood vessel disease may help with managing a child’s condition.
• During medical visits, your child’s weight and height are measured and plotted on a chart of normal growth values.
• Additional regular evaluations, including electrocardiograms and dental, vision, and hearing exams, may be recommended.
Certain therapies may ease or delay some of the signs and symptoms. These therapies may include –
1• low dose aspirin
2• Other medications for Cholesterol, blood pressure, blood clots, headaches, and seizures
3• Physical and occupational therapy for joint stiffness and hip problems
4• Nutritious, high-calorie foods, and supplements
5• Dental Care
Lifestyle to be maintained in Progeria – a genetic condition

For more informative articles on health issues, please visit our website www.santripty.com and also feel free to consult.

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