Basic Facts You Should Know About Progeria - OnePharmily OnePharmily: Basic Facts You Should Know About Progeria
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Saturday, 10 November 2018

Basic Facts You Should Know About Progeria


Progeria is also known as Hutchinson-Gilford syndrome (HGPS). It is an extremely rare, progressive disorder related to genes that causes children to age faster, starting in their first two years of life. Children with this syndrome generally appear normal at birth but, during the first year, signs and symptoms begin to appear.

Heart diseases are the eventual cause of death in most children with this disorder. Most children with progeria die before the age of 13 though some with the disease die younger and some might survive more than 20 years

To be precise, there is no cure for progeria, even though reaserches are still going on.

Normally, in the first year of life, growth of the child slows markedly, but motor development and intelligence remain normal.

  • Slowed growth, with height and weight that are below average
  • Narrowed face with small lower jaw, thin lips and beaked nose
  • Head is usually disproportionately large for face
  • Prominent eyes and incomplete closure of the eyelids
  • Hair loss, including eyelashes and eyebrows
  • Thinning, spotty, wrinkled skin
  • Visible veins
  • High-pitched voice 
  • Delayed and abnormal tooth formation
  • Some hearing loss
  • There might be loss of fat under the skin and loss of muscle mass
  • Fragile bones
  • Stiff joints
  • Hip dislocation
  • Insulin resistance
  • Severe progressive heart and blood vessel (cardiovascular) disease

According to the recent findings, progeria is caused by a single gene mutation. This single gene is known as lamin A (LMNA), it normally makes a protein necessary for holding the center (nucleus) of a cell together. However when a defect occurs in this gene, it makes cells unstable, which appears to lead to progeria's aging process.

Progeria isn't like other genetic mutations because it is not passed down in families. 

Progeria may be suspected based on signs and symptoms above. To confirm the diagnosis, a genetic test for LMNA mutations is normally done.

As already mentioned in the introduction, there's no cure for progeria, but regular monitoring for cardiovascular disease may help in managing the child.

However, certain procedures and drugs may ease or delay some of the signs and symptoms. They include:

Low-dose aspirin: This normally helps in prevention of  heart attacks and stroke when taken daily.

Other drugs: drugs such as statins to lower cholesterol or anticoagulants to help prevent blood clots may be used.

Physiotherapy: This may help reduce joint stiffness and hip problems in order to help the child to remain active.

Removal of primary teeth: The child's permanent teeth may start coming in before the primary teeth fall out. Overcrowding may be prevented by pulling out some primary teeth for proper positioning of the permanent teeth.

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