HEALTH SCIENCES PRESENTATION

PROGERIA

Summary

Introduction

history

cause

symptoms

treatment

conclusion

progeria in a few figures

History

definition

Introduction

We often hear the word rare disease, but no one really cares. No one is trying to figure out what the word really is and what's really behind it.there are billions of diseases known to scientists but which remain unrecognized in our society. we try to know them once it happens to us, for example, let's mention some of his illnesses: pica, foreign hand syndrome, progeria.Today, let's talk a bit about progeria, one of the most misunderstood diseases in the world and yet it affects children, which may be cause enough to make young parents aware of it. To better act in case this happens to them, take precautions. What is progeria? Where does it come from? How does it manifest? Does he have a treatment?

History of progeria

This disease was first described in 1886 by Jonathan Hutchinson, then by Hastings Gilford in 1893.

Jonathan hutchinson et hasting gilford

Progeria is a rare genetic disease that cannot be detected from birth. It develops very early and causes physical changes that cause accelerated aging in the early years. Progeria is also nicknamed "Benjamin Button syndrome" or "Hutchinson-Gilford syndrome".

Definition

Causes

Progeria affects both sexes. The onset of symptoms begins between 18 and 24 months. Affected children present symptoms evoking premature and accelerated aging: scanty hair (alopecia), thin, wrinkled, defatted skin. Their nails are poorly developed. Children exhibit slow growth, bone and muscle disorders, and retarded dental growth. They also feel pain in the joints and have cardiovascular problems. However, their intellectual capacities are not altered. The life expectancy of sick children is around 13 years.

Evolution of a child with progeria

PRE-LAMINE A/C

Causes

The lamin A gene on chromosome 1 is responsible for the premature aging of affected individuals. However, the precise mechanism leading to premature aging remains to be elucidated.

The pathology is due to a mutation in the LMNA gene. A mutation in this gene is present in 90% of children with progeria. It is said to be "de novo", that is to say that it appears in children without being present in the parents. The LMNA gene allows the production of specific proteins: lamins A and C.

progeria in a few figures

In September 2020, there were 179 known cases worldwide, in 53 countries and 150 undiagnosed cases worldwide

progeria affects 1 in 20 million births.

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The disease is so far consistently fatal before normal adulthood, and there is no known specific treatment and it cannot be prevented. Gene therapy is a treatment route that is currently being explored.

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