Canavan Disease
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
· The
Three Types of Canavan Disease
· Treatment
Available
· Incidence
Among People of Jewish Heritage
· Screening
and Other Resources
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
· Irritablility
· 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
Treatment Available
Treatment is supportive. This means that what is treated are the symptoms such
as the movement disorders, seizures and feeding problems.
Incidence Among People of Jewish
Heritage
Canavan Disease is most common in Ashkenazi Jews. One in 40 Ashkenazi Jews are
carriers.
An individual has to inherit a change gene from both parents to have the disease.
If both parents, carriers for Canavan Disease, have a child - each child has:
· 1-in-4 chance of having Canavan
Disease.
· 2-in-4 chance of being a carrier
· 1-in -4 chance of neither having
Canavan nor being a carrier.
· Unaffected siblings of individuals
with Canavan have a 2-in-3 chance of being carriers.
Screening and Other Resources
There is a carrier screening test
which requires a sample of blood that can determine whether or not a gene change
is present in the gene for Canavan Disease.
Prenatal diagnosis for Canavan can be attained with the use of CVS (chorionic
villus sampling) or amniocentesis, which are performed early in the pregnancy.
For
Genetic Counseling and Screening Resources – Click Here
More
Resources for Canavan
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.