How Do You Spell JUVENILE CANAVAN DISEASE?
Pronunciation: [d͡ʒˈuːvənˌa͡ɪl kˈanɐvˌan dɪzˈiːz] (IPA) 
Pronunciation: [d͡ʒˈuːvənˌa͡ɪl kˈanɐvˌan dɪzˈiːz] (IPA)
Juvenile Canavan Disease is a rare and severe genetic disorder that primarily affects the development and functioning of the brain. It refers to a form of Canavan disease, a broader neurodegenerative disorder, which specifically manifests during childhood or adolescence.
Canavan Disease is caused by mutations in the ASPA gene, which is responsible for producing the enzyme aspartoacylase. This enzyme plays a crucial role in breaking down a substance called N-acetylaspartic acid (NAA) in the brain. However, in individuals with Juvenile Canavan Disease, the ASPA gene mutations prevent the production of functional aspartoacylase, leading to a buildup of NAA in the brain.
The accumulation of NAA disrupts the normal signaling pathways in the brain, resulting in the progressive degeneration of the white matter. This leads to various neurological symptoms, including developmental delays, intellectual disability, muscle weakness, and difficulties with coordination and movement. Other common symptoms may include seizures, vision problems, increased head size (macrocephaly), and a decline in cognitive function.
Unfortunately, there is currently no cure for Juvenile Canavan Disease. Treatment options primarily focus on managing the symptoms and improving the individual's quality of life. This may include physical therapy, medications to alleviate symptoms, and supportive care.
Due to the severe nature of this disease and its early onset, individuals with Juvenile Canavan Disease typically have a shortened life expectancy, often not surviving past childhood or adolescence.
