Canavan Disease -- Genetic Screening Advised

The Committee on Genetics of the American College of Obstetricians and Gynecologists (ACOG) has recommended that persons of Eastern and Central European (Ashkenazi) Jewish descent be offered screening for Canavan disease, a progressive fatal genetic disorder of the central nervous system. The screening would be for the detection of carriers of the gene that causes the inherited disorder. About 90% of the six million Jews in the United States are of Ashkenazu descent and are possible carriers (see below).

When a child with Canavan disease is between 3 and 6 months of age, the signs and symptoms of the disorder usually begin to appear. These include developmental delay (significant motor slowness), enlargement of the head (macrocephaly), loss of muscle tone (hypotonia), poor head control, and severe feeding problems.

In time, as the disease progresses, there are convulsions (seizures), deterioration of the nerve to the eye (optic atrophy), blindness, heartburn (gastrointestinal reflux), and difficulties swallowing.