Spongy disease of white matter, also known as Canavan disease, is a rare genetic disorder that affects the central nervous system's white matter. The white matter comprises nerve fibers, known as axons, which are responsible for transmitting signals between different areas of the brain. This disorder is characterized by the progressive degeneration and destruction of these axons, leading to widespread damage within the brain.
Individuals affected by spongy disease of white matter typically exhibit symptoms early in life, usually within the first few months after birth. These symptoms may include delayed development, an enlarged head, poor muscle tone, and motor abnormalities such as difficulty in controlling movements. As the disease progresses, individuals may also experience seizures, intellectual disabilities, and vision problems.
Spongy disease of white matter is caused by mutations in the ASPA gene, which leads to a deficiency of the aspartoacylase enzyme. This enzyme is responsible for breaking down a molecule called N-acetylaspartate (NAA) in the brain. Without sufficient aspartoacylase, NAA accumulates to toxic levels, causing the destruction of the white matter.
Currently, there is no cure for spongy disease of white matter. Treatment approaches primarily focus on managing the symptoms and providing supportive care to individuals affected by this condition. This may involve physical therapy to improve motor skills and muscle tone, medications to control seizures, and interventions to address other associated problems.
Overall, spongy disease of white matter is a debilitating genetic disorder characterized by the progressive degeneration of the brain's white matter, leading to multiple neurological impairments and disabilities.
