Treatment of Progeria in Urdu | Bachpan Main Burhape Ki Bemari | Bachpan Main Burhape ki ki Wajohaat

Progeria is a rare genetic condition that causes a person to age prematurely. Children with progeria appear healthy, but by the age of 2 years, they look as if they have become old too fast.

Causes

Most children with progeria have a mutation on the gene that encodes for lamin A, a protein that holds the nucleus of the cell together. This protein is also known as progerin.Progeria is a genetic condition.

The defective protein is thought to make the nucleus unstable. This instability makes cells more likely to die younger, leading to the symptoms of progeria.

It seems 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 if there is already one child in the family with progeria, there is a 2 to 3 percent chance that another sibling will have it.

Genetic testing can show whether a parent has the mutation or not.

Symptoms

A newborn with progeria looks healthy, but by the age of between 10 months and 24 months, features of accelerated aging start to appear.

Signs of progeria include:

• limited growth and short stature
• lack of body fat and muscle
• loss of hair, including eyelashes and eyebrows
• early signs of skin aging, including thin skin
• stiffness in the joints
• visible veins
• stroke
• narrow, wrinkled, or shrunken face
• a head that is large compared with the body
• a small jaw bone
• slow and abnormal tooth development
• a high-pitched voice
• limited range of motion and possible hip dislocation
• generalized atherosclerosis, leading to cardiovascular and heart disease

The connective tissue in the skin tends to become tough and hardened.

Tests may also show signs of insulin resistance, but cholesterol and triglyceride levels should be normal.

Progeria does not impact the child's brain development or intelligence, and it does not mean a higher risk of infection. It does not affect motor skills, so children with the condition can sit, stand, and walk like any other child.

Children from any ethnic background can have progeria, but they will have a similar appearance.

Treatment

Occupational therapy can help to address joint stiffness.

There is no cure for progeria, but occupational and physical therapycan help the child keep moving if their joints are stiff.

Heart health is critical for people with progeria, so the doctor may prescribe statins, nitroglycerin for angina, and routine therapy for congestive heart failure.

Eating healthily and getting regular exercise are important.

Some patients may have cardiac surgery to slow the progression of heart disease.

Self-care tips may include eating different foods when the lipid, or fat, profile begins to change, and eating small meals regularly to maximize calorie intake.

Sun screen is important for protecting the skin, and padding in shoes can help minimize discomfort caused by a lack of fat padding on the body.