Leading the Fight to treatand cure Tay-Sachs, Canavan and related diseases
Canavan disease is diagnosed through a combination of biochemical and DNA tests. Increased amounts of N-acetylaspartic acid (NAA) is found in the urine. Profound deficiency of aspartoacylase is found in cultured skin fibroblasts. Known disease-causing mutations are frequently found through DNA testing. Occasionally, known mutations are not found suggesting novel (or unknown) mutations.
Often an MRI or CT showing signs of decreased myelination leads to the Canavan diagnosis.
Anyone can be a carrier of Canavan. When both parents are carriers each child has a 25% of having the disease. The carrier rate for the general population is 1/300. Ashkenazi Jews are at high risk with a carrier rate of 1/40.
Talk to your doctor about
genetic counseling to discuss your options before starting your family.
National Tay-Sachs & Allied Diseases Association2001 Beacon StreetSuite 204Boston, MA 02135
firstname.lastname@example.org(617) 277-4463 phone(617) 277-0134 fax
Biotechnology Info www.ncbi.nlm.nih.gov
At NTSAD, we are making a difference. Every day. Helping families and individuals find their way and providing hope by supporting research on many levels. All of this takes compassion and determination.
There is no time to waste, and families need our help. Those who are fighting today and those who will seek our help tomorrow.
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