Progeriais a condition in which an affected individual experiences rapid or early aging.
This article will discuss the types of progeria, symptoms, prognosis, treatment, and more.
In Werner syndrome, individuals have no effects on development until puberty.
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This can include:
Causes
Progeria is a genetic disease.
This means that the disease is triggered by changes in genetic material.
Mosaicism is when a person has a genetic mutation in only some of their cells.
HGPS is autosomal dominant.
Werner syndrome occurs due to mutations in the WRN gene.
Abnormal Werner protein does not work effectively.
Werner syndrome follows an autosomal recessive inheritance pattern.
The affected individual inherits an abnormal gene from both parents.
Diagnosis
A diagnosis of progeria is confirmed withgenetic testing.
This often happens once the affected individual starts showing characteristic signs of progeria.
With HGPS, signs of progeria that lead to diagnosis occur early in life.
This can mean treatment for conditions likeosteoporosis(thinning of the bones) or heart disease.
For those with Werner syndrome, the treatment is specific to the symptoms in the individual.
Werner syndrome increases cancer risk.
While there are treatments, nothing stops the progression of the disease.
For those with HGPS, mortality is usually the result of heart failure.
Support groups can provide helpful advice on living with progeria or caring for someone with the condition.
TheProgeria Research Foundationhas several chapters that can provide information and support.
A therapist can also be helpful and provide much-needed support and coping tools following a diagnosis of progeria.
Summary
Progeria is a progressive, life-threatening condition.
They are genetic conditions for which there is no cure, but there are treatments available.
Those with Werner syndrome have a longer life expectancyinto their 40s and 50sbut this is still significantly early mortality.
National Organization for Rare Disorders.Hutchinson-Gilford progeria syndrome.
Genetic and Rare Diseases Information Center.Werner syndrome.
2011;70(3):52-55.
2022;17(1):226. doi:10.1186/s13023-022-02383-w
