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Andermann syndrome
Other Names for this Disease
- ACCPN
- Agenesis of corpus callosum with neuronopathy
- Agenesis of corpus callosum with peripheral neuropathy
- Agenesis of corpus callosum with polyneuropathy
- Charlevoix disease
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Overview
Andermann syndrome (AS) is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). 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.[1]
References
- Andermann syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/andermann-syndrome. Accessed March 3, 2011.
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General Information
- Genetics Home Reference (GHR) contains information on Andermann syndrome. Click on the link to go to GHR and review the information.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Andermann syndrome. Click on the link to go to OMIM and review these resources.