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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.
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
Who are the top Andermann Syndrome Local Doctors?
Advanced in Andermann Syndrome
Neurology
Advanced in Andermann Syndrome
Neurology

University Of Vermont Medical Center Inc

790 College Pkwy, 
Colchester, VT 
Languages Spoken:
English, Hindi
Offers Telehealth

Rup Tandan is a Neurologist in Colchester, Vermont. Dr. Tandan is rated as an Advanced provider by MediFind in the treatment of Andermann Syndrome. His top areas of expertise are Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Myasthenia Gravis, Dysferlinopathy, Primary Lateral Sclerosis, and Thymectomy.

Advanced in Andermann Syndrome
Advanced in Andermann Syndrome
222 Piedmont Ave, Suite 3200, 
Cincinnati, OH 
Languages Spoken:
English
Accepting New Patients

John Quinlan is a Neurologist in Cincinnati, Ohio. Dr. Quinlan is rated as an Advanced provider by MediFind in the treatment of Andermann Syndrome. His top areas of expertise are Myasthenia Gravis, Inclusion Body Myositis, Distal Myopathy 2, and X-Linked Dominant Scapuloperoneal Myopathy. Dr. Quinlan is currently accepting new patients.

 
 
 
 
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David P. Randall
Experienced in Andermann Syndrome
Experienced in Andermann Syndrome

Advocate Medical Group Neurology

1875 Dempster St, Ste 625/660, 
Park Ridge, IL 
Languages Spoken:
English

David Randall is a Neurologist in Park Ridge, Illinois. Dr. Randall is rated as an Experienced provider by MediFind in the treatment of Andermann Syndrome. His top areas of expertise are Lambert-Eaton Syndrome, Peripheral Neuropathy, Chronic Inflammatory Demyelinating Polyneuropathy, and Myasthenia Gravis.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center