1. Canavan Disease

2. Alternative Names Spongy degeneration of the brain
Aspartoacylase deficiency
ACY2 deficiency
Aminoacylase 2 deficiency
Aspa deficiency
Asp deficiency
Canavan-Van Bogaert-Bertrand disease
Leukodystrophy, spongiform
Spongy degeneration of central nervous system
Asp deficiency
Canavan-Van Bogaert-Bertrand disease

3. How Common is This Disorder?
This can occur in people of all ethnic backgrounds
Most common in people of Ashkenazi (eastern and central European) Jewish heritage.
Studies show that this occurs in every 1 out of 6,400 to 13,500 people in the Ashkenazi Jewish population.
The incidence in other populations is unknown.

4. Causes?
The lack of the enzyme, aspartoacylase, leads to a buildup of material called N-acetyl aspartic acid in the brain. This causes the white matter of the brain to break down or deteriorate.
This disease is passed or in hearted through families.
This disease is gene-linked disease but researchers have not yet figured out which gene it affects.
This disease affects the nervous system as well as the brain.

5. Symptoms Abnormal posture with flexed arms and straight legs
Backflow of food material into the nose (nasal regurgitation)
Feeding problems
Increasing head size (macrocephaly)
Irritability
Lack of head control when baby is pulled from a lying to a sitting position (head lag)
Poor muscle tone, especially of the neck muscles
Poor visual tracking or blindness
Reflux with vomiting
Seizures
Severe mental retardation
Swallowing difficulties

6. Symptoms Cont.
Symptoms usually begin in infancy
Infants typically begin a normal life and start to show symptoms at age 3 to 5 months
Delay in motor skills
Can’t hold head up
Can’t roll over
Weak muscle tone
Usually large head
Can be visible by just looking at a person.

7. How Common is This?
Around 1 in 6,400 or 0.02% or 42,500 people in USA have Canavan Disease.
In North America around 67,361 people have the disease.
In South America around 47,026 people have the disease.
In Europe around 122,304 people have the disease.

8. About the Disease Complications Canavan disease is very fatal.
Most people with the disorder don’t live past their adolescent years.
Some people make it to their young adult years but not many
Complications
May cause blindness
Inability to walk
Mental retardation

9. Treatment? Treatment aims to ease the symptoms.
There is no treatment for Canavan Disease.

10. Testing for the Disease
Blood chemistry
CSF chemistry
Genetic testing for aspartoacylase gene mutations
Head CT scan
Head MRI scan
Urine chemistry
Diagnosis can be made when the child is an infant usually between the ages 3-5 months.

11. Support Groups Jacobscure.org
Canavan Foundation 450 West End Ave. New York, NY Voice: or Fax: Website:
Jacobscure.org
Jacob's Cure Post Office Box 52 Rye, New York (914)

12. Facts
When two carriers have a child together, there is a 1 in 4 chance the child will have Canavan.
Canavan disease is named for Myrtelle Canavan, who first described the disorder in 1931.
One of the earliest signs of Canavan Disease recognized by many parents is overall low muscle tone and lack of head control.

13. Jacobscure.org

14. Works Cited
"Canavan Disease - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding Genetic Conditions. Web. 26 Jan <
"Statistics by Country for Canavan Disease - WrongDiagnosis.com." Wrong Diagnosis. Web. 26 Jan <