Canavan Disease
by Yael Rosenberg, RN

   •  Description
   •  Symptoms
   •  Incidence and Carriers
   •  Treatment
   •  Testing
   •  Resources and More
   •  Support Group

Description
Canavan is an inherited disease which is due to lack of substance in the body called aspartoacylase (ASPA). It is a type of enzyme normally found in the part of the brain where nerve impulses are sent to other parts of the brain and the spinal cord. ASPA breaks down NAA into 2 smaller compounds. When ASPA is missing NAA builds up and causes brain damage, mental retardation, large head size tremors and inability to move muscles

Symptoms
The Three Types of Canavan Disease
Type I: Neonatal Form
Onset is at birth and death occurs within few weeks of life.

Symptoms presented:
   •  Decreased spontaneous movements
   •  Lethargy
   •  Difficulty swallowing, feeding and sucking
   •  Irritability
   •  Cheyne-stokes respirations (marked by periods of apnea)

Type II: Infantile Form
Onset is at a few months of life and death occurs between ages three and four
This is the most common type of Canavan.

Initial Symptoms presented:
   •  Delayed psychomotor development
   •  Lethargy and poor head and neck control

Later Symptoms Presented:
   •  Movement Disorders
   •  Seizures
   •  Blindness
   •  Failure to Thrive
   •  Gastrointestinal reflux

Type III: Juvenile Form
Onset after age five and death occurs at adolescence

Initial Symptoms Presented :
   •  Tremors
   •  Mental deterioration
   •  Ataxia (lack of coordination)
   •  Ptosis (drooping of the eyelids)

Later Symptoms Presented:
   •  Dementia
   •  Spasticity
   •  Impaired speech production
   •  Optic atrophy

Incidence and Carriers
Studies suggest that this disorder affects 1 in 6,400 to 13,500 people in the Ashkenazi Jewish population. The incidence in other populations is unknown. One in forty Ashkenazi Jews are carriers. 

Treatment
Treatment is supportive. This means that what is treated are the symptoms such as the movement disorders, seizures and feeding problems.

Testing
Diagnosis: Made upon finding an increased level of NAA in the urine. The abnormally high levels of NAA lead to a loss of insulation and spongy degeneration of the brain.

Screening for Canavan disease carriers requires molecular diagnostic methods, unlike Tay-Sachs which is screened using simple enzyme testing.

When both parents are carriers of a Canavan disease gene, prenatal DNA diagnosis can be done by chorionic villus sampling (CVS) or amniocentesis.

Resources and More
The Victor Outreach and Screening Program for Ashkenazi Jewish Genetic Diseases of Tufts Medical Center
Victor Center for Jewish Genetic Diseases
Albert Einstein Medical Center
5501 Old York Road
Philadelphia, PA
215-456-8722

For Genetic Counseling and Screening Resources – Click Here

Support Groups
The Canavan Foundation
110 Riverside Drive #4F
New York, N.Y. 10024
Telephone: (212) 873-4640
Toll free: (877) 4-CANAVAN
Fax: (212) 873-7449
e-mail: Canavandisease@aol.com 
website: http://www.canavanfoundation.org 

The Canavan Research Foundation
Fairwood Professional Building
New Faifield, CT 06812
Telephone: (203) 746-2436
Fax: (203) 746-3205
http://www.canavan.org

Canavan Research Illinois
"Dedicated to Curing Canavan Disease"
PO Box 8194
Rolling Meadows, IL 60067
Telephone: (800) 833-2194
email: canavan@canavanresearch.org 
http://www.canavanresearch.org
 
Canavan Research Illinois is exceptionally responsive to the Canavan families, physicians, and researchers that contact the charity. Canavan Research Illinois puts Canavan families in touch with one another, and also provides them (at no charge) with a Canavan Quality Of Life Guide.

United Leukodystrophy Foundation
Canavan Disease