Progeria is an uncommon and deadly genetic situation that makes an individual older than they’re. The word Progeria derived from the Greek word “pro” meaning “Before or prematurely” and “geras” meaning old age. So we can say that Progeria 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
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 an adult Progeria, which occurs later in life but HGPS is a classic type of Progeria which affect 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
TYPES OF PROGERIA
- 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 a child look normal at birth time and early infancy this kind of children appears old at an early age, kids start to grow faster than a normal child, after 1 to 2 yr or illness started
CAUSES OF HGPSL:
A main and only cause is the LMNA gene this gene produces “lamin –A” protein, the abnormal lamin A protein that causes Progeria is called progerin. Progerin makes the nucleus unstable that mobile instability results in the method of untimely growing old or Progeria.
Babies with Progeria are normal at their birth time after a one year they starting showing symptoms. They don’t develop or acquire weight usually they develop bodily 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 the 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
It is an extremely rare genetic disorder. There are no known factors that may risk getting or give birth to a child with Progeria, but parents who had a child suffering from it have likely 2to 4 percent chances to having a second child with it. None other factors e.g. environment, lifestyle, etc are not affected or do not have a risk for Progeria.
HOW LONG CHILD CAN ALIVE?
A toddler who’s affected by Progeria (HGPS) has older too sooner so he/she can not reside greater than 13 to 14yr. The 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 based on signs and symptoms but a test that detects it 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 farnesyl transferase 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 mainly a drug that treats most cancers.
The drug lonafarnib alone with no therapy was related to a decrease mortality price 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 called “grownup Progeria” the Werner syndrome is called after the German scientist “Otto Werner” it’s an especially uncommon autosomal recessive sample of inheritance. Individuals with Werner syndrome don’t seem 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
Switch by way of mother and father who have an irregular 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:
- Type 2 diabetes
- Heart disorders
- Cataract in both eyes
This disorder mainly effects in Japan
1 in 2, 00,000 people
HOW TO DIAGNOSE?
- Genetic test: that help to diagnosed mutation of the gene
Some sing and symptoms predict that person is having Werner syndrome that sings are;
- Cardinal sings (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.
Check here for health updates: Portal Query Health