📂 Diseases
Aicardi-Goutieres syndrome 5 — Definition
Aicardi-Goutieres sendromu tip 5 / Aicardi-Goutieres syndrome 5
Aicardi-Goutieres syndrome type 5 is a rare genetic disease and is characterized by neurological disorders, typically starting in early childhood. The disease leads to motion disorders such as mental and motor development, seizures and dystoni, which leads to inflammation andcalcifications in the brain. This type, showing autozomal resesif inheritance, is particularly associated with mutations in SAMHD1 gene, and the result of abnormal activation of interferon signal routes.
Frequently Asked Questions
❓ What is Aicardi-Goutieres sendromu tip 5?
Aicardi-Goutieres sendromu tip 5; aicardi-Goutieres syndrome type 5 is a rare genetic disease and is characterized by neurological disorders, typically starting in early childhood. The disease leads to motion disorders such as mental and motor development, seizures and dystoni, which leads to inflammation andcalcifications in the brain. This type, showing autozomal resesif inheritance, is particularly associated with mutations in SAMHD1 gene, and the result of abnormal activation of interferon signal routes.
❓ What is Aicardi-Goutieres syndrome 5 in Turkish?
The Turkish equivalent of "Aicardi-Goutieres syndrome 5" is Aicardi-Goutieres sendromu tip 5.
❓ Which medical field is Aicardi-Goutieres sendromu tip 5 related to?
This term belongs to the Diseases category.