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Canavan Disease
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· Resources
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· Support Groups
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
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