Severe Canavan disease is a rare, inherited neurological disorder that affects the brain and spinal cord. It is caused by a mutation in the ASPA gene, which is responsible for producing an enzyme called aspartoacylase. Without this enzyme, the brain is unable to break down certain fatty acids, leading to the buildup of a toxic substance called N-acetylaspartic acid (NAA). This buildup causes severe damage to the brain, leading to a range of neurological symptoms including developmental delays, seizures, vision and hearing loss, and muscle weakness.

The most common symptoms of Severe Canavan disease include:

-Developmental delay
-Loss of previously acquired skills
-Seizures
-Muscle weakness
-Poor muscle tone
-Feeding difficulties
-Vision and hearing loss
-Difficulty swallowing
-Difficulty speaking
-Difficulty walking
-Abnormal head shape
-Enlarged head
-Abnormal facial features
-Abnormal eye movements
-Abnormal EEG (electroencephalogram)
-Abnormal MRI (magnetic resonance imaging)

Severe Canavan disease is caused by mutations in the ASPA gene. This gene provides instructions for making an enzyme called aspartoacylase, which is essential for the normal development of the brain. Mutations in the ASPA gene lead to a deficiency of aspartoacylase, which causes the buildup of a substance called N-acetylaspartic acid (NAA) in the brain. This buildup of NAA leads to the destruction of nerve cells in the brain, resulting in the signs and symptoms of Canavan disease.

Unfortunately, there is no cure for Severe Canavan disease. Treatment focuses on managing symptoms and providing supportive care. This may include physical therapy, occupational therapy, speech therapy, and nutritional support. Medications may also be prescribed to help manage seizures, muscle spasms, and other symptoms.

1. Being of Ashkenazi Jewish descent
2. Having a family history of Canavan disease
3. Having a parent who is a carrier of the mutated gene
4. Being born to a mother over the age of 35

Unfortunately, there is no cure for Canavan disease. However, there are medications and treatments available to help manage the symptoms. These include physical therapy, occupational therapy, speech therapy, medications to help control seizures, and nutritional supplements.