Other Names for this Disease
- Charlevoix disease
- Corpus callosum agenesis neuronopathy
- Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum
- Agenesis of corpus callosum with neuronopathy
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Agenesis or malformation of the corpus callosum also occurs in most people with this disorder. Signs and symptoms of the disorder include areflexia; hypotonia; amyotrophy; severe progressive weakness and loss of sensation in the limbs; and tremors. Affected individuals typically begin walking late and lose this ability by their teenage years. Other features may include intellectual disability, seizures, contractures, scoliosis, various psychiatric symptoms, various atypical physical features, and cranial nerve problems that cause facial muscle weakness, ptosis, and difficulty following movements with the eyes (gaze palsy). It is caused by mutations in the SLC12A6 gene and is inherited in an autosomal recessive manner. AS is associated with a shortened life expectancy, but affected individuals typically live into adulthood.Andermann syndrome (AS) is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy).
Last updated: 3/3/2011
- Andermann syndrome. Genetics Home Reference. June 2008; http://ghr.nlm.nih.gov/condition/andermann-syndrome. Accessed 3/3/2011.
- Genetics Home Reference (GHR) contains information on Andermann syndrome. This website is maintained by the National Library of Medicine.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Andermann syndrome. Click on the link to view a sample search on this topic.