For example, one type of leukodystrophy, Canavan disease, causes decreased muscle tone, especially in the neck, and abnormally straight legs and flexed arms. It can also include symptoms like ...

Canavan disease is a rare, inherited leukodystrophy arising from mutations in the ASPA gene, which result in reduced activity of the enzyme aspartoacylase. This enzyme deficiency leads to the ...

Canavan disease (CD) is a fatal childhood genetic brain disease caused by mutations in the ASPA gene (ASPA) which prevent the normal expression of aspartoacylase, ...

After months of delays due to the pandemic, an MRI in August 2021 confirmed a diagnosis: Canavan disease, a rare and fatal genetic disorder affecting the central nervous system.On the very day Noa ...

Canavan Disease. Genetically based, this rare autosomal, recessive, inherited disorder is marked by common symptoms that include onset in infancy between ages 3 and 6 months, macrocephaly ...

It wasn't long before they got a diagnosis: Canavan disease. Canavan is a rare, hereditary disease that over time, causes the brain to deteriorate into spongy tissue with lots of tiny, fluid ...

Ashtyn Fellenz died at age 24 on December 5, 2024. As a child, she was diagnosed with Canavan Disease, a rare genetic disorder that causes the degeneration of the coating that protects nerves and ...

Currently, this disease has no cure, resulting in a life expectancy of less than 10 years. . At the time of diagnosis, Ciro was the only child in Argentina or Guatemala suffering from Canavan disease.