Huntington’s Disease Uncovered: How it Affects Lives Unseen
Imagine a scene in your city where there is a boy who begins to move differently. He is making sudden, jerky movements that look like he is dancing when he isn’t supposed to.
These movements are like a dance that the kid can’t control, and they are happening more and more often.
The kid couldn’t control his movements very well.
Imagine your arms or legs suddenly moving on their own, making jerky and unplanned movements.
This made simple things like eating or writing very difficult.
Suddenly, the kid would get really sad for no reason.
He would feel down and not want to do things he used to enjoy. Other times, he’d get really grumpy and angry, even over small things.
You didn’t understand why the kid’s moods were changing so much.
As time passed, you noticed the kid was having trouble walking straight.
He was losing his balance more frequently and seemed to be bumping into things. Even eating became difficult for the kid as he had trouble swallowing his food.
Simple things like finding the way home or remembering someone’s name became difficult.
As time passed, this illness gradually took away more and more of their abilities.
It made walking and talking harder, and even eating became a challenge.
This is called Huntington’s disease.
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Our body is made up of tiny building blocks called cells, and within those cells, chromosomes are present.
There are a total of 23 pairs of chromosomes in our cells, and within these chromosomes lie genes — the instruction manual of the body.
Genes comprise a set of genetic codes that determine characteristics such as eye color, height, bodily functions, and more.
In chromosome 4 , there is a gene called HTT.
HTT gene, where the instructions for the huntingtin protein are written, is located on chromosome 4.
This protein plays a role in our brain cells’ functioning.
There’s a part of that gene that repeats a specific sequence called CAG too many times.
CAG sequence repeats too much in the gene, makes the huntingtin protein all wonky.
Normally, CAG — might repeat around 10 to 35 times. But in Huntington’s, it repeats many more times, usually 36 or more.
This wonky protein then causes trouble in the brain.
It messes with how the brain works and slowly damages certain parts, causing problems with movement, thinking, and even emotions.
Huntington’s disease is linked to chromosome 4 because the mistake or mutation happens in the HTT gene located on this chromosome.
Now, why this extra repeating happens ?
Scientists are still studying.
It’s thought that it might be a mix of things, like genetics passed down from parents.
Sometimes, a person can inherit the gene with this extra repeating CAG from one of their parents, and that’s when Huntington’s disease can develop.
But it’s not something a person chooses or something they can control — it’s just a part of how our genes work.
Huntington’s disease (HD) stands as a daunting challenge within the realm of neurodegenerative disorders.
It’s a complex, hereditary condition that impacts the brain’s functionality, causing severe cognitive decline and motor impairments.
Preventive Measures and Challenges
Currently, no cure exists for HD.
However, certain measures may help manage symptoms and improve the quality of life for affected individuals.
Genetic counseling and testing offer the possibility of early detection, enabling individuals to make informed decisions about family planning and healthcare.
The challenges surrounding HD are multifaceted.
The complexity of the genetic mutation and the wide-ranging impact on brain function make it challenging to develop effective treatments.
Additionally, managing the progressive symptoms requires comprehensive care, including physical, emotional, and psychological support for both patients and caregivers.
Scientists are investigating techniques like antisense oligonucleotides (ASOs) and small interfering RNA (siRNA) to silence or reduce the expression of the mutated HTT gene, potentially slowing disease progression.
Huntington’s disease affects approximately 5 to 10 individuals per 100,000 people worldwide.
So, while it’s a challenging road, there’s a lot of heart and hope in this journey. Together, we learn that being there for each other makes a huge difference, and that’s what makes us stronger.
Facing Huntington’s disease isn’t easy, but the strength and support of families and friends make a big difference. It’s about finding hope and staying strong together, no matter what challenges come our way.
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If you like this you can read about William Syndrome Disorder.
Here is the link of Bloom Disorder.
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