spongiform leukodystrophy; Canavan's disease; Canavan-van Bogaert-Bertrand spongy degeneration
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Introduction
see NINDS Canavan Disease Information Page
Genetics
- autosomal recessive leukodystrophy
- associated with defects in ASPA gene
Clinical manifestations
- atonia of neck muscles
- hyperextension of legs, flexion of arms
- blindness
- severe mental defect
- megalocephaly
- average age of survival = 18 months
Laboratory
- see ARUP consult[1]
- ASPA gene mutation
More general terms
Additional terms
References
- ↑ 1.0 1.1 ARUP Consult: Jewish Genetic Disease The Physician's Guide to Laboratory Test Selection & Interpretation
Ashkenazi Jewish Genetic Diseases Carrier Screening Algorithm https://arupconsult.com/algorithm/jewish-genetic-diseases-carrier-screening-algorithm
Ashkenazi Jewish Genetic Diseases Panel https://arupconsult.com/ati/ashkenazi-jewish-genetic-diseases-panel - ↑ National Institute of Neurological Disorders and Stroke (NINDS) NINDS Canavan Disease Information Page https://www.ninds.nih.gov/disorders/All-disorders/canavan-disease-information-page
Patient information
spongiform leukodystrophy (Canavan's disease) patient information