PROGERIA, A RARE DISEASE THAT MAKES THE PATIENTS AGING MORE QUICKLY

Progeria is a congenital disease a rare cause children to experience premature aging since the first 2 years of life. A child suffering from progeria typically experience pattern baldness, and skin, wrinkles, and her body is smaller than his age.

However, do you know what is actually progria it and what causes it? Let’s find your answer in the following review!

Progeria is a rare genetic disorder that occurs in childhood. The disease is also known by the name of Hutchinson-Gilford Progeria Syndrome (HPGS) is said to be rare because it occurs only one case in the four million births in the whole world. Progeria causes physical aging of a child very quickly and started the first two years after birth.

Children with this disorder generally look normal when born. The symptoms of progeria will appear after the first year. The symptoms of this disease can be in the form of hair loss and growth late in the child.

The Cause Of Progeria

Progeria or Hutchinson-Gilford Progeria Syndrome is caused by a change (mutation) in a single gene called LMNA. Not yet known exactly what causes genetic mutations and what are the factors that trigger.

Gene mutations LNMA cause the formation of progerin, namely abnormal proteins that result in the formation of the cells are aging rapidly. As a result, a child suffering from progeria will experience the symptoms of premature aging.

Progeria Hutchinson-Gilford not a hereditary disease. There are 2 conditions that also cause symptoms of aging early Progeria Hutchinson-Gilford, namely:

Syndrome progeria Wiedemann-Rautenstrauch, namely progeria that occur in the fetus. When the baby is born, signs of aging can be seen clearly.

Syndrome progeria Werner, namely progeria that occur in adolescents and adults. In this condition, patients can develop osteoporosis, cataracts, and diabetes.

The Symptoms Of Progeria

Babies who have progeria will typically look normal at the beginning of his life. Usually, the symptoms of progeria new start looks when the child is aged 9 to 24 months. A child suffering from progeria will experience a delay in growth and visible experience the signs of aging. Even so, this condition is generally not interfere with the development of the motor (motion) and intelligence of children.

The symptoms of progeria include:

• Thinning skin, wrinkles, and embossed black spots, like a parent

• Teeth grow late or grow up with a shape that is not normal

• The ability to hear declined

• Joints stiff

• Muscle mass and fat under the skin is reduced

• The skin becomes hard and stiff as having scleroderma

• Venous blood vessels clearly visible

• Voice sound louder

• High and lower weight than a child his age or stunted growth

• The face looks small, the jaws are small in size, thin lips, and a nose shaped like a beak of a bird

• The hair on the head, eyes, and eyebrows did not grow (bald)

• Ball protruding eyes and the eyelids can’t close perfectly

A child suffering from progeria also often have heart disease, a buildup of plaque in the arteries, stroke, cataract, arthritis, and dislocation of the bones of the pelvis.

The Diagnosis Of Progeria

Progeria is a condition that can be diagnosed by the symptoms that are very clearly visible. The doctor usually will diagnose the disease based on signs and symptoms that appear on the first or second year since the baby was born.

Usually, the disease is detected when the doctor was performing a routine examination on the child. The doctor will perform a physical examination, a hearing test baby, test the eyesight of a baby, as well as compare the weight and height of infants and children according to age.

A physical examination will be conducted by the doctor if Your child is suspected of suffering from progeria is as follows:

• Measure height and weight.

• Compare growth with a growth chart children’s normal.

• Test your hearing and vision.

• Check vital organs, including blood pressure.

• Look for signs and symptoms of the disease are typical.

Specialist genetic are also usually required to confirm the diagnosis. Some additional tests will be performed to get more accurate results, such as blood tests and genetic.

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