What is Hutchinson–Gilford Progeria Syndrome?

Hutchinson-Gilford Progeria Syndrome is an extremely rare genetic disorder which causes children to age rapidly. The first signs of this disorder can be seen as early as within two years of life of the child. When born, children with Hutchinson-Gilford Progeria Syndrome appear normal without any issues but as they start to grow within the first year of life symptoms start to appear with gradual loss of hair and slow progression of growth. This condition progresses rapidly to such an extent that a 13 year old child will have the appearance of a 60-year-old elderly man. The root cause of Hutchinson-Gilford Progeria Syndrome is mutation in gene Lamin-A.

This gene produces protein that holds the nucleus of the cell together. When there is a defect in this gene it makes the cell unstable causing a rapid increase in the aging process of the child. As of now, there is no cure for this condition and a child with Hutchinson-Gilford Progeria Syndrome in majority of the cases survives at maximum till 14 years of age before succumbing to cardiovascular issues and strokes which are a complication of Hutchinson-Gilford Progeria Syndrome.

What is Hutchinson–Gilford Progeria Syndrome?

What Causes Hutchinson–Gilford Progeria Syndrome?

As stated above, the root cause for Hutchinson-Gilford Progeria Syndrome is a defect in gene Lamin-A. This defect causes the nucleus of the cell to become unstable which triggers the rapid aging process of a child. Unlike other genetic conditions, Hutchinson-Gilford Progeria Syndrome is not an inherited condition. In fact, researchers believe that this gene change occurs by chance affecting a sperm or an egg right before conception

What are the Symptoms of Hutchinson–Gilford Progeria Syndrome?

The symptoms of Hutchinson-Gilford Progeria Syndrome start within the first year of life of a child. The child will have extremely slow rate of growth. As the child grows, there will be thinning of the hair. With time, as the disease progresses there will be more symptoms visible with a distinct appearance of the child who will look older than a normal child of his or her age. The child will have a narrowed face, small jaw, thin lips, and a beaked nose. The head of the child will be significantly larger than the face. The child will not be able to close the eyes completely. There will be loss of hair in the eyebrows. The child will have extremely thin skin. The voice of the child will also be that of a high pitched tone. Apart from this, the child will also have hearing loss, extremely fragile bones, and stiff joints due to Hutchinson-Gilford Progeria Syndrome.

How is Hutchinson–Gilford Progeria Syndrome Diagnosed?

The diagnosis of Hutchinson-Gilford Progeria Syndrome can be decisively made just by looking at the child and the symptoms that the child experiences. To further confirm the diagnosis, the doctor may do a genetic test to look for mutation in Lamin-A gene which will confirm the diagnosis of Hutchinson-Gilford Progeria Syndrome.

How is Hutchinson–Gilford Progeria Syndrome Treated?

As of yet, there is no cure for Hutchinson-Gilford Progeria Syndrome. Treatment is mainly aimed at keeping the child as comfortable as possible. This is done by regular monitoring of the cardiovascular system to prevent any stroke or other conditions. A low dose of aspirin daily may help prevent incidents of cardiovascular problems. Certain other medications like cholesterol lowering medications and blood thinners may be given to prevent blood clots. For joint stiffness, physical therapy may be prescribed and even keep the child up and about. This is all that may be done as far as treating Hutchinson-Gilford Progeria Syndrome is concerned.

What are Certain Home Remedies Helpful for Hutchinson–Gilford Progeria Syndrome?

There are certain home remedies that can be followed to keep the child comfortable while dealing with a disease like Hutchinson-Gilford Progeria Syndrome. These home remedies are:

Hydration: It should be made sure that the child is kept well hydrated at all times, as dehydration in a child with this condition can be even more dangerous.

Diet: It is important for children with Hutchinson-Gilford Progeria Syndrome to have frequent small meals to provide sufficient nutrition to the child.

Physical Activity: Make sure that the child stays active to prevent joint stiffness.

What is the Prognosis & Survival Rate of Hutchinson–Gilford Progeria Syndrome?

Unfortunately, the prognosis for a child with Hutchinson-Gilford Progeria Syndrome is extremely grim and a child at maximum is able to survive for a maximum of 14 to 15 years. There have been some cases where a child has gone on to live till 20 years of age but the quality of life deteriorates with each passing year and by the time the child reaches 12 years his body has matured to that of a 70 year old man due to Hutchinson-Gilford Progeria Syndrome.

Written, Edited or Reviewed By:

, MD, FFARCSI

Last Modified On: May 11, 2017

Pain Assist Inc.

Pramod Kerkar

Views: 268

  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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