Canavan Disease

Canavan disease is a rare and severe genetic disorder that affects the brain and nervous system. It is also known as Canavan-Van Bogaert-Bertrand disease or aspartoacylase deficiency.

Causes and Genetics

Canavan disease is caused by a mutation in the ASPA gene, which provides instructions for making an enzyme called aspartoacylase. This enzyme is necessary for breaking down a certain type of amino acid called N-acetylaspartic acid (NAA). Without enough aspartoacylase, NAA builds up in the brain and causes damage to the myelin sheath, which is the protective covering around nerve fibers.

Symptoms

The symptoms of Canavan disease typically begin within the first few months of life. They may include:

• Weak muscle tone (hypotonia)
• Large head size (macrocephaly)
• Delayed development, such as not sitting or walking at the expected age
• Seizures
• Loss of motor skills and cognitive abilities over time

Diagnosis

Canavan disease can be diagnosed through a combination of physical examination, medical history, and laboratory tests. These may include:

• Genetic testing to identify the mutation in the ASPA gene
• Magnetic resonance imaging (MRI) or computed tomography (CT) scans to look for changes in the brain
• Urine tests to measure the level of NAA

Treatment and Management

There is currently no cure for Canavan disease, but various treatments can help manage its symptoms. These may include:

• Physical therapy to maintain muscle strength and mobility
• Occupational therapy to develop daily living skills
• Speech therapy to improve communication
• Medications to control seizures and other symptoms

Prognosis

The prognosis for individuals with Canavan disease varies depending on the severity of the condition. With supportive care, some people may live into their teens or twenties, while others may have a shorter life expectancy.