Moyamoya disease, the story that it is inherited... It's true (including symptoms and probabilities)

Has anyone recently watched 'My Precious Child'?

A 7-year-old girl who appeared on the broadcast
Suddenly, I refused to go to kindergarten,
Waking up crying in the early morning,
They said that when sitting on the toilet, they experienced a symptom of their mouth becoming numb and stiff.

 

My mother was so shocked that she was taken to the hospital, and
I heard the term "suspected Moyamoya disease."

 

And what was even more shocking was,
The fact that the child's father was actually a Moyamoya disease patient.
He collapsed due to a cerebral hemorrhage and is in a coma.

Child's left hand numbness, sudden nosebleed, abnormal fainting response.
At first, things that might have seemed like the child was simply sensitive or had psychological issues
Actually, it was a sign of a rare disease that could be inherited.

 

Moyamoya disease mortality rate: In adults with hemorrhagic moyamoya disease, it is very high at over 25%.

 

 

 

 

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🧬 Moyamoya disease, is it hereditary? Yes. It is hereditary.

 

To be precise, "There is a possibility of heredity."
The reason why we cannot simply dismiss it as "someone else's problem" is due to the probability below.

 

- When two members within first-degree relatives in the family have Moyamoya disease → Familial Moyamoya disease

More than 15.4% of all patients have a familial type
The maternal inheritance rate is 3.4 times higher than the paternal inheritance rate.
- 2.10% if the mother is a patient, 1.49% if the father is a patient
- Broadly speaking, there is a possibility of up to 43% genetic inheritance.

 

The name of the gene is RNF213.
The exact mechanism of action has not been determined.
It is said to be a gene involved in the formation of the inner wall of blood vessels.

 

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🧠 Moyamoya disease: Suspect immediately if you see these symptoms

 

The frightening thing about this disease is that its symptoms are very diverse.
I thought it was just a headache, but it turns out that a blockage in brain blood flow could be the cause.

 

- Suddenly, one hand/arm feels numb
It feels like my mouth is frozen, as if it is numb for no reason.
- Speech becomes slurred, and I suddenly faint.
- The children often have nosebleeds, cry intensely, and become strange.
Symptoms appear after actions that can increase intracranial pressure (blowing up balloons, playing wind instruments).

 

In particular, in pediatric patients, symptoms can be triggered when they cry or blow air forcefully.

 

 

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The reason why the case of Geumjjoki was more shocking

 

On the broadcast, the child strongly refused to attend kindergarten, and
Suddenly crying in the morning, my mouth became stiff and my hands tingled.
It has also been reported that the child's father is in a coma due to Moyamoya disease.

 

Most of the people who saw that
"Oh, I realized for the first time that this disease can be inherited."

 

 

 

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Is moyamoya disease curable?

 

Moyamoya disease is closer to management than a complete cure.
However, if detected early and surgery (vascular anastomosis) is performed
You can reduce the risk of stroke by more than 80%.

Especially women planning to become pregnant
Because there is also a risk of brain hemorrhage during childbirth
It is important to conduct early tests and prepare with surgery.

 

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📌 Important Checkpoint

 

If the mother has a chronic illness, the child's risk of developing the disease is over 2%.
Recommend early screening if there is a family history, even without symptoms.
- Stress, hyperventilation, and excessive exercise can trigger symptoms
- Most patients can recover to normal daily activities with early diagnosis
- Risk of disease can be assessed through genetic testing (RNF213)

 

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If even one family member is affected, this is not just a matter to be settled with a routine health checkup.

 

Moyamoya disease may appear outwardly healthy, but

It is a condition where the blood vessels in the brain are quietly becoming blocked from the inside.

If you're worried about genetics and searched for it,
Please make sure to consult a specialist even now.