What is Progeria Disease: Causes, Symptoms and its Treatment

What is Progeria Disease: Causes, Symptoms and its Treatment

Progeria Disease

Progeria is a rare and fatal genetic condition that makes a person older than they are.

A word Progeria derived from the Greek word “pro” meaning

Before or prematurely” and “gears” meaning old age.

So we can say that Progeria Disease is a rare genetic condition in which a person grows too faster or become older prematurely.

The exact cause of this disorder is an abnormal protein known as progerin which is used by cells.

What is Progeria Disease: Causes, Symptoms and its Treatment

Progeria is also known as a Hutchinson Gilford Progeria syndrome (HGPS) which named after the doctors who first described it in England; in 1886 by Dr. Jonathan Hutchinson and 1897 by Dr. Hastings Gilford another type of Progeria is Werner syndrome known as a adult Progeria, which occurs later in life but HGPS is a classic type of Progeria Disease which affects by birth

It is an extremely rare condition but affects both sexes and all races equally

It affects 1 in every 4 to 5 million births worldwide


  • Hutchinson Gilford Progeria syndrome
  • Werner syndrome (adult Progeria)

So let’s go first with HGPS

Hutchinson Gilford Progeria Syndrome

A Most common and classic type of Progeria

Progeria with child look normal at the birth time and early infancy this kind of children appears old at their early age, kids start growing more faster than a normal child, after 1 to 2 year or disease began


A main and only cause is LMNA gene this gene produces “lamin –A” protein, the abnormal lamin A protein that causes Progeria is called progerin. A progerin makes the nucleus unstable that cellular instability leads to the process of premature aging or Progeria


Babies with Progeria Disease are normal at their birth time after a one year they starting showing symptoms. They do not grow or gain weight normally they develop physical traits

  • A high pitch voice
  • Inflammatory or visible veins
  • Abnormal tooth growth
  • Bigger head or larger for face
  • Large eyes
  • Small jaw
  • A thin nose and lips
  • Hair loss including eyelashes and eyebrows
  • Cardiovascular (related to heart ) and blood vessels disease
  • Loss of muscle tone
  • Loss of muscle mass and fat
  • Stiffness of joints
  • Hip dislocation
  • Insulin resistance
  • Hearing impairment
  • Back and body aches



Progeria is an extremely rare genetic disorder. There are no known factors that may risk to get or give a birth to a child with Progeria, but parents who had a child suffering from Progeria have likely  2 to 4 percent chances to having a second child with Progeria. None other factors e.g. environment, lifestyle etc are not affect or does not have the risk for Progeria.


A child who is suffering from Progeria (HGPS) has older too faster so he/she cannot live more than 13 to 14year. Life expectancy of these kinds of children are maximum 14 years some few children live up to 20 years but it’s rare


A child may suspect Progeria Disease based on signs and symptoms but a test that detects Progeria is;

  • LMNA mutation test: a genetic test that confirms that diagnosis
  • Physical examination may include;
  • Measure height & weight
  • Hearing and vision tests
  • Measuring vital signs



Usually no curative treatment for Progeria but a symptomatic treatment that can control symptoms

According to the journal of the American medical association (JAMA) reports (2018) that lonafarnib, a farnesyltransferase inhibitor (FTI), helps to extend life or more chances to survival in children with Progeria.

This drug lonafarnib is a farnesyltransferase inhibitor (FTI) which is basically a drug that treats cancer.

The drug lonafarnib alone with no treatment was associated with a lower mortality rate of about 3.7 %vs. 33.3%

Other Treatments Are:


Occupational therapy & Physical therapy helps children active and also helps with joint stiffness problems


Hearing aids: children with Progeria are prematurely older and they have so many old age problems hearing impairment is one of them

Spectacles: they also get vision problems early

Nutritional therapy: high calories foods help to maintain adequate nutrition


Werner syndrome (WS) also known as “adult Progeria” the Werner syndrome is named after the German scientist “Otto Werner” it’s an extremely rare autosomal recessive pattern of inheritance. People with Werner syndrome do not look like their “chronological age “

A person with this disorder grow normally until they reach puberty it begins when they are in their twenties.

How long life expectancy with adult Progeria?

Average life expectancy for the patient is 40 to 45 years


Mutation in the WRN gene that causes this syndrome

Transfer through parents who have an abnormal gene mutation


  • Short structure
  • Skin changes including; wrinkling, ulcer, dryness, bruising, discoloration
  • Early graying or thinning of the hair
  • Tissue damage
  • Thin limbs


Other health issues are:

  • Atherosclerosis
  • Osteoporosis
  • Type 2 diabetes
  • Heart disorders
  • Cataract in both eyes



This disorder mainly affects in Japan

1 in 2, 00,000 people


1. Genetic test: that help to diagnosed mutation of the gene

2. Physical examination:

Some sign and symptoms predict that a person is having Werner syndrome that signs are;

  • Cardinal signs (bilateral ocular cataracts)
  • Premature graying hair
  • And other signs that the older age



No curative treatment is there some symptomatic treatment like control diabetes, a drug that lowers cholesterol,

Prevention of Further Complication:

  • Daily exercise and yoga
  • Avoid fatty food
  • Avoid smoking


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