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Mild Canavan disease
Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development.
ORPHA:314918Classification level: Subtype of disorder
- Juvenile Canavan disease
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Childhood
- ICD-10: E75.2
- OMIM: 271900
- UMLS: C0751667
- MeSH: -
- GARD: -
- MedDRA: -
Mild CD has been identified in only a few cases. The majority of patients with Canavan disease have the severe form (see this term). In contrast to the severe CD, most mild CD patients are not from Ashkenazi Jewish descent.
Mild CD usually presents in childhood with mild developmental delay or problems with speech or motor development. Head circumference is usually normal. Retinitis pigmentosa (see this term) may be present. .
CD is caused by mutation in the ASPA gene (17p13.3), coding for the aspartoacylase enzyme. Mild CD is associated with heterozygous genotypes comprising a mild mutation and a severe one. Mild mutations include Y288C, R71H, P257R, I143T, and Y231C.
The brain MRI usually demonstrates an increased signal intensity in the basal ganglia and the urine level of N-acetyl-L-aspartic acid (NAA) is slightly elevated. Mutation screening can be performed for molecular diagnosis.
Prognosis is good and children often attend normal school but may need speech therapy or a tutor. Life expectancy is normal.
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