Canavan disease is a severe inherited condition that can cause developmental problems in children. There is currently no cure, but some treatments and support may help.

Canavan disease is a rare childhood condition. It is a type of condition called leukodystrophy, which affects a person’s white matter in the brain and spinal cord. These are nerve fibers that connect different areas of the brain.

Canavan disease usually develops in early childhood, though some forms can occur later. It leads to shorter life expectancy and increasingly severe disability.

There is no standard course of treatment. Instead, interventions aim to support people with Canavan disease and help manage symptoms.

Read on to learn about the symptoms and causes of Canavan disease. This article also discusses diagnosis, treatments, and more.

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The symptoms of Canavan disease vary from person to person. They may include:

  • delays in early childhood development, such as sitting and standing
  • inability to walk independently
  • head control issues
  • macrocephaly, or having a larger head circumference
  • hypotonia, or very low muscle tone leading to floppiness, which may develop into spasticity
  • being unresponsive
  • irritability
  • dysphagia, or difficulty swallowing
  • nasal regurgitation
  • sleep problems
  • vision problems
  • seizures
  • paralysis

Children with Canavan disease typically show symptoms by ages 3–6 months. However, some forms may develop later than this.

Mutations in the ASPA gene cause Canavan disease. This gene provides instructions for a person’s body to make an enzyme called aspartoacylase. Enzymes are proteins that help speed up chemical reactions in human bodies and are essential for many bodily functions.

Aspartoacylase typically breaks down a compound called N-acetyl-L-aspartic acid (NAA), which is in a person’s brain. Mutations in a person’s ASPA gene stop aspartoacylase enzymes from working as they should. This prevents the body from breaking down NAA. This causes NAA to build up in the brain and other body parts, leading to Canavan disease.

Scientists do not know the exact function of NAA. However, studies suggest that having too much NAA in a person’s brain can affect the myelin sheaths in the brain and spinal cord. These sheaths allow electrical signals to travel properly along nerves.

Scientists believe that NAA buildup may progressively destroy sheaths or stop them from developing correctly.

To assist with reaching an accurate diagnosis, doctors may use:

  • clinical findings, or observing a person’s symptoms and signs
  • imaging findings and tests, such as brain:
    • CT scans
    • MRI scans
    • magnetic resonance spectroscopy scans
  • laboratory findings, such as tests including:
    • biochemical testing, including urine tests
    • molecular genetic testing, testing for the ASPA genetic mutation that causes Canavan disease

If a person’s doctor suspects Canavan disease, they can provide more information about the tests they order. The tests can also help to rule out other conditions.

There is no standard treatment for Canavan disease — instead, interventions may help ease and manage a person’s symptoms.

An individual may receive care by a team of specialist healthcare professionals, such as:

  • neurologists who diagnose and treat conditions affecting the brain, spinal cord, and nerves
  • orthopedic specialists who treat conditions affecting muscles, bones, and joints
  • physical therapists to relieve pain and strengthen muscles
  • occupational therapists to help people carry out everyday activities
  • feeding therapists
  • educators

Possible treatments include:

Canavan disease is a rare condition.

Although the exact number of cases is unclear, older research found that it is more common in people of Ashkenazi Jewish descent. However, more recent studies found more instances of Canavan disease outside these communities than health experts previously reported.

There does not appear to be any scientific data on how many people have Canavan disease overall. However, it suggests the condition affects between 1 in 6,400 and 1 in 13,500 people among the Jewish population.

It is not possible to prevent or cure Canavan disease. A genetic mutation in a person’s ASPA gene causes the condition.

However, prenatal diagnosis is possible. A doctor may order tests if both biological parents have known ASPA gene mutations.

Most children with Canavan disease develop life threatening complications before the age of 10 years.

However, the outlook will be different for each individual. A person’s doctor can provide more information about the severity of the condition and how they expect it to progress.

Here are some common questions about Canavan disease.

What is life like with Canavan disease?

People with Canavan disease require supportive care for symptoms such as difficulties with feeding and vision problems. Individuals can also experience seizures. Most infants with Canavan disease do not survive into adulthood.

What age group is affected by Canavan disease?

Canavan disease typically develops by ages 3–6 months. Sometimes, people may develop symptoms later in their childhood or adolescence, though the condition usually causes death by the age of 10 years.

Canavan disease is a severe genetic condition. It affects how a person’s body breaks down the enzyme aspartoacylase, which the body needs to break down N-acetyl-L-aspartic acid (NAA). This can lead to a buildup of NAA, which prevents the nervous system from developing as it should.

Infants with Canavan disease develop symptoms early in life that get worse over time. People with the condition often require supportive care for their symptoms. They also typically have a shorter life expectancy.

Although there is no cure for Canavan disease, some treatment options and support may help.