Home Health What is Hutchinson-Gilford syndrome suffered by youtuber Adalia Rose?

What is Hutchinson-Gilford syndrome suffered by youtuber Adalia Rose?

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“On January 12, 2022, Adalia Rose Williams was released from this world. She was born into it and left it quietly, but her life was far from it.” This is how the family of the famous youtuber announced her death on instagram.

The teenager succumbed to Hutchinson-Gilford syndrome, also known as “progeria“, Where “Benjamin Button Syndrome“, a genetic disease characterized by premature aging noticeable from an early age.

Aged 15, the young girl had decided to launch herself on Youtube in 2012. She regularly published videos in which she presented her favorite outfits, talked about makeup and shared her daily life, surrounded by her family and friends. She had passed the average life expectancy of people suffering from this disease: 13 years.

One in 4 to 8 million births is affected

According to Inserm (source 1), Hutchinson-Gilford syndrome concerns one in 4 to 8 million births. This “extremely rare” genetic disease is due to a de novo mutation (not present in the parents) of a gene called LMNA.

This mutation was identified in 2003 by a team of French researchers led by Nicolas Lévy. “When the mutation occurs, this gene produces a truncated protein, called progerin, which remains anchored in the membrane of the cell nucleus, accumulates there, and ultimately leads to its deformation and dysfunctions“, explains the Institute.

Signs of premature and accelerated aging

Patients with progeria suffer from symptoms suggestive of premature aging.

However, their intellectual abilities are not impaired., specifies the Foundation for Medical Research (source 3).

There is currently no effective treatment

There is currently no treatment for Hutchinson-Gilford syndrome.

The treatments only allow relieve symptoms of progeria. “In order to limit cardiovascular complications, children with a low-fat diet are given a low-fat diet and they are given statins (substance indicated for the prevention of cardiovascular risks)”, specifies the Foundation for Medical Research.

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