Andermann Syndrome
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Andermann Syndrome Overview

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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
Dr. Christopher D. Lee
Neurology
Advanced in Andermann Syndrome
Dr. Christopher D. Lee
Neurology

Vanderbilt Medical Group- Teleneurology

1161 21st Ave South, A-0118 Medical Center North, 
Nashville, TN 
615-936-0060
Languages Spoken:
English
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. Dr. Lee is rated as an Advanced provider by MediFind in the treatment of Andermann Syndrome. He is also highly rated in 32 other conditions, according to our data. His clinical expertise encompasses Myasthenia Gravis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Spinal Muscular Atrophy (SMA), Guillain-Barre Syndrome, and Gamma Knife Radiosurgery. Dr. Lee is board certified in American Board Of Psychiatry & Neurology.

Experienced in Andermann Syndrome
Dr. Mohammad A. Khoshnoodi
Neurology
Experienced in Andermann Syndrome
Dr. Mohammad A. Khoshnoodi
Neurology

Reading Hospital

420 South 5th Avenue, 
West Reading, PA 
484-628-8000
Languages Spoken:
English
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. Dr. Khoshnoodi is rated as an Experienced provider by MediFind in the treatment of Andermann Syndrome. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Peripheral Neuropathy, Miller-Fisher Syndrome, Guillain-Barre Syndrome, and Chronic Polyradiculoneuritis. Dr. Khoshnoodi is board certified in American Board Of Psychiatry And Neurology.

 
 
 
 
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Experienced in Andermann Syndrome
Dr. Joseph J. Melvin
Neurology
Experienced in Andermann Syndrome
Dr. Joseph J. Melvin
Neurology

St. Christopher's Pediatric Associates Neurology - E. Erie Avenue

160 E Erie Ave, 
Philadelphia, PA 
215-427-5470
Languages Spoken:
English
See accepted insurances

. Dr. Melvin is rated as an Experienced provider by MediFind in the treatment of Andermann Syndrome. He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses Generalized Tonic-Clonic Seizure, Phenylketonuria (PKU), West Syndrome, and Seizures. Dr. Melvin is board certified in American Board Of Psychiatry And Neurology.

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