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Canavan Disease.


GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
1999 Sep 16 [updated 2011 Aug 11].



Neonatal/infantile (severe) Canavan disease is characterized by macrocephaly, lack of head control, and developmental delays usually noted by age three to five months. As children get older hypotonia becomes severe and failure to achieve independent sitting, ambulation, or speech become apparent. Hypotonia eventually changes to spasticity. Assistance with feeding becomes necessary. Life expectancy is usually into the teens. Mild/juvenile Canavan disease is characterized by mild developmental delay that can go unrecognized. Head circumference may be normal.


The diagnosis of neonatal/infantile Canavan disease relies on demonstration of very high concentration of N-acetylaspartic acid (NAA) in the urine. In mild/juvenile Canavan disease NAA may only be slightly elevated; thus, the diagnosis relies on molecular genetic testing of ASPA, the gene encoding the enzyme aspartoacylase.


Treatment of manifestations: Neonatal/infantile Canavan disease: Treatment is supportive and directed to providing adequate nutrition and hydration, managing infectious diseases, and protecting the airway. Physical therapy minimizes contractures and maximizes motor abilities and seating posture; special education programs enhance communication skills. Seizures are treated with antiepileptic drugs. Gastrostomy may be needed to maintain adequate food intake and hydration when swallowing difficulties exist. Surveillance: Neonatal/infantile Canavan disease: Follow up every six months to evaluate developmental status and evidence of any new problems.


Canavan disease is inherited in an autosomal recessive manner. Each pregnancy of a couple in which both partners are heterozygous for a disease-causing mutation in ASPA has a 25% chance of resulting in a child with Canavan disease, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing is available on a population basis for individuals of Ashkenazi Jewish heritage. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible when the disease-causing mutations in the family are known. For couples in which one partner is known to be a carrier and the carrier status of the other is unknown, prenatal testing can be performed by measuring the concentration of NAA in amniotic fluid at 16 to 18 weeks’ gestation.

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