What is Hutchinson-Gilford progeria syndrome?
Hutchinson-Gilford progeria syndrome is an extremely rare genetic disorder which causes children to age rapidly.
How common is Hutchinson-Gilford progeria syndrome?
This condition is very rare; it is reported to occur in 1 in 4 million newborns worldwide. More than 130 cases have been reported in the scientific literature since the condition was first described in 1886. Please discuss with your doctor for further information.
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:
- Narrowed face
- Small jaw
- Thin lips
- Beaked nose
Also, 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.
There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.
When should I see my doctor?
If you or your loved one has any signs or symptoms listed above or has any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.
What causes Hutchinson-Gilford progeria syndrome?
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 increases my risk for Hutchinson-Gilford progeria syndrome?
Please consult with your doctor for further information.
Diagnosis & treatment
The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.
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.
Lifestyle changes & home remedies
What are some lifestyle changes or home remedies that can help me manage Hutchinson-Gilford progeria syndrome?
The following lifestyles and home remedies might help you cope with Hutchinson-Gilford progeria syndrome:
- 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 syndrometo have frequent small meals to provide sufficient nutrition to the child.
- Physical activity: Make sure that the child stays active to prevent joint stiffness.
If you have any questions, please consult with your doctor to better understand the best solution for you.
Hello Health Group does not provide medical advice, diagnosis or treatment.
Hutchinson–Gilford Progeria Syndrome: Causes, Symptoms, Treatment, Prognosis, Survival Rate https://www.epainassist.com/genetic-disorders/hutchinson-gilford-progeria-syndrome Accessed January 30, 2018
Hutchinson-Gilford progeria syndrome https://ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome#statistics Accessed January 30, 2018
Review Date: January 30, 2018 | Last Modified: February 22, 2018