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Canavan disease (CD) is a neurodegenerative leukodystrophy that typically presents as a neonatal/infantile (severe) form with onset of symptoms at 2-4 months that include poor head control, macrocephaly, truncal hypotonia, and developmental delay. Severe CD is associated with delayed motor skills and the inability for these children to sit, stand, walk or talk. Many severe patients also have optic atrophy. Over time, spasticity develops and sleep disturbance, seizures and feeding difficulties may be present. Spongy degeneration of the white matter is present, with swollen astrocytes and elongated mitochondria. The life expectancy of patients with the severe form is variable with survival reported from months to past the teen years. A much more rare mild/juvenile form of CD also exists that is characterized by mild developmental delay that may go unrecognized. CD occurs in all ethnic groups, but it is most common in the Ashkenazi Jewish population where the carrier rate has been estimated at 1 in 40 to 1 in 82.
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Zou et al. Whole exome sequencing: an effective and comprehensive genetic testing approach for leukodystrophy [abstract submitted] To be presented at the 2017 ASHG Annual Genetics Meeting, October 17-21, Orlando, FL.