Learn About Andermann Syndrome

What is the definition of Andermann Syndrome?
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. 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 genetic changes in the SLC12A6 gene and is inherited in an autosomal recessive manner.
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What are the alternative names for Andermann Syndrome?
  • Andermann syndrome
  • ACCPN
  • Agenesis of corpus callosum with neuronopathy
  • Agenesis of corpus callosum with peripheral neuropathy
  • Agenesis of corpus callosum with polyneuropathy
  • Charlevoix disease
  • Corpus callosum agenesis neuronopathy
  • HMSN/ACC
  • Hereditary motor and sensory neuropathy with agenesis of the corpus callosum
  • Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum
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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Andermann Syndrome?

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