Progeria: what is it, symptoms, causes, diagnosis and possible treatment

By Cristiano Antonino Last updated Dec 16, 2022

Progeria turns out to be a sporadic gene pathology, which results in the rapid aging: the pathology takes over from the first years of birth, during which the subject manifests the primary factors

Death occurs during adolescence, as a result of cardiovascular discomfort.

There are no curative treatments for progeria, and the prognosis is dismal

Nevertheless, it turns out to be possible to implement specific curative therapies, having the function of prolonging the life of individuals for a few years.

Science is investigating methods that more fully encompass progeria.

The latter turns out to be known by the designation of Hutchinson-Gilford syndrome.

Infants with this condition begin to show primary signs early in infancy.

After a few months, the symptoms become more predominant, eventually leading to death in subjects during the adolescent phase.

Sporadically, certain subjects reach the age of 20.

The condition does not change the psychic potential of juvenile subjects, who are similar to corresponding subjects of the same age.

As a somewhat sporadic condition, it compromises 1 in 8 million infants.

Most affected children die around the age of 13 from vascular dysfuction.

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The symptomatology of progeria takes over after birth, during the first year of life

Observed are:

slow development
scleroderma
face of small size and narrowed
head large in size and not proportionate to the face
beak-like nose
pronounced eyeball
falling hair, eyelashes and eyebrows
thinning of the lips
small and recumbent jawline
visible veins
high-pitched tone of voice
abnormal and loose teeth
reduced muscle tone and body fat
joint stiffening
dislocation of the hip
reluctance to insulin
arrhythmias

Subsequently, individuals with progeria manifest complications such as: cardiovascular problems, atherosclerosis, kidney failure, lack of vision, and previous musculoskeletal decay.

Affected patients appear frail and lack the ability to perform the motor functions of individuals of the same age.

Contrary to popular belief, premature aging does not cause any tumors and neurodegenerative diseases peculiar to advancing age.

The person with progeria does not have mental retardation; on the contrary, he or she has an active and discerning mind

This causes difficulty in resignation, resulting in the onset, in some cases, of depressive states and affliction.

Progeria, being a genetic disorder, results from genetic mutations in the DNA

One gene, in the cambium world, develops an abnormal protein: the gene causing progeria turns out to be LMNA.

This turns out to be located within chromosome 1 and develops a protein called lamin A.

The latter confers support for the essential structure of the cell nucleus.

The absence of this gives the nucleus a different, deformed exterior.

The deformed nucleus, lacking the support of lamin A, impairs vital cellular functions, for example, mitosis.

Diagnosis

Predicts:

developmental slowdown
alopecia areata
skin numbness, so-called scleroderma

The prognosis does not turn out to be benevolent, as there are no drugs that can cure it.

However, trials of some drugs are giving hope to patients and family members.

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Source

Bambino Gesù

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