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Birth Defects and Hereditary Diseases Topics..

You are here : home > Birth Defects and Hereditary Diseases > Common Birth Defects > Progeria: Hutchinson-Gilford Progeria Syndrome (HGPS)

Progeria: Hutchinson-Gilford Progeria Syndrome (HGPS)

Hutchinson-Gilford Progeria Syndrome (HGPS) is a typical and one of the rarest diseases. Yet it is advisable to keep a watch on the development of your child especially in the first three years of age.

Hutchinson-Gilford Progeria Syndrome (HGPS) is a very rare disease and is diagnosed by premature ageing. It affects the skin, musculoskeletal system and develops vascular problems. The most prominent sign is that a very young child looks like an old man. It is not necessary that all ageing symptoms would be seen in the affected child. Sometimes typical neurological problems and increased incidence of cancer is not manifested as well.

Affected children usually look normal at child birth and early infancy. But they grow slowly and do not gain weight like other infants. This problem causes hair loss and aged-looking skin along with joint abnormalities and there is loss of fat under the skin observed. They have chances of heart attack or stroke in very early age. The complication are usually serious and life threatening as well. The problem occurs in people having no history of this disorder in family.

Symptoms of Hutchinson-Gilford Progeria Syndrome (HGPS)

Let us take a look at the common symptoms of Hutchinson-Gilford Progeria Syndrome.

  • Slow growth and almost no weight gain in infants
  • Different facial appearance
  • Thin nose with curved tip
  • Small chin
  • Prominent eyes
  • Hair loss
  • Aged-looking skin
  • Joint abnormalities
  • Loss of fat under the skin
  • Normally no disruption in intellectual development
  • Normal sitting, standing and walking is observed
  • Severe hardening of arteries in early childhood increases the chance of heart attack or stroke 

Medical Care and Treatment

There is no effective treatment available for Hutchinson-Gilford Progeria Syndrome (HGPS) till date. Patient should be under close observation and careful monitoring for cerebrovascular or cardiovascular diseases is vital.

  • It is ideal to maintain physical activity and active lifestyle with the help of physical and occupational therapy.
  • Hydrotherapy can be specifically effective in minimizing symptoms of arthritis and help improve joint mobility as well.
  • Feeding problem is observed in infants. In some cases placement of gastrostomy tube if placed for supplemental enteral feeding so that adequate nutrition is provided.
  • In some cases, growth hormones are used to reduce catabolic demands and enhance weight gain and linear growth.
  • Recently, it has been observed that a specific antibiotic has shown effects on aging related cellular pathways and has also shown symptoms to facilitate degradation of progeria.
  • Results from recent clinical trial has shown improvements in weight gain, reduce vascular stiffness, increase bone mineral density and improved sensorineural hearing in affected children.
  • Prevention of cardiovascular complications and overall improvements in phenotypic features of progeria has resulted in increased longevity. 

Hutchinson-Gilford Progeria syndrome (HGPS) is caused by the mutation of the LMNA gene. The function of this gene is to provide instructions for making a specific protein that plays an important role in determining the shape and nature of the nucleus within the cells. Progeria syndrome results in production of an abnormal version of this protein. This makes the nuclear surrounding unstable and gradually damages the nucleus and hence the cells die prematurely.

It is advisable to gather as much information as possible if the symtoms of this syndrome is found in any infant. Generally, close observation on infants and early diagnosis can help extend life to a great extent. Patients as well as their families and physicians can gather further information and find out opportunities of enrollment in clinical trials. In this way they can at least help the Progeria Research Foundation work and find treatment earlier than possible.

Although there is no treatment found for patients with Hutchinson-Gilford Progeria Syndrome (HGPS), the infants are born healthy and they display specific features of this syndrome only around 18 – 24 months of age. Children born with this problem usually die of heart disease and have a life span of up to thirteen years. 

What is Hutchinson-Gilford Progeria Syndrome (HGPS) or Progeria? What are the symptoms of Progeria? How to prevent Progeria? Discuss here.

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Alesha.11 months ago
Is there any way in which this disease can be prevented.
Ishika.11 months ago
I don't think that there is any way in which disease can be prevented. But I hope that preventive measure are available soon with the research and development on this disease.
Abhishek.11 months ago
I feel so pity for children who are coping with this disorder. It should not happen to any child.
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