The Rare Brain Disorder You’ve Probably Never Heard Of: Canavan Disease
Автор: WHAT THE HEALTH
Загружено: 2025-11-19
Просмотров: 1
Описание: Canavan disease is one of the rarest genetic brain disorders known to medicine, primarily affecting infants and young children. It’s caused by mutations in the ASPA gene, which leads to a buildup of N-acetylaspartic acid (NAA) in the brain. This buildup damages the white matter, preventing the brain from sending signals properly. Children with Canavan disease often struggle with motor control, muscle tone, and development, with symptoms appearing in the first few months of life. There’s no known cure yet, but scientists are testing gene therapy and enzyme replacement treatments that could change the future of this devastating condition. This video breaks down what makes Canavan disease so rare, how it’s diagnosed, and why researchers believe new breakthroughs are closer than ever.
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