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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?
Distinguished in Andermann Syndrome
Distinguished in Andermann Syndrome

Albany Medical College

47 New Scotland Ave, 
Albany, NY 
Languages Spoken:
English

Matthew Murnane is a Neurologist in Albany, New York. Dr. Murnane and is rated as a Distinguished provider by MediFind in the treatment of Andermann Syndrome. His top areas of expertise are Tomaculous Neuropathy, Hereditary Sensory Neuropathy Type 1 (HSN1), Septic Arthritis, and Sensorimotor Polyneuropathy.

Distinguished in Andermann Syndrome
Distinguished in Andermann Syndrome

Florida Hospital Medical Group Inc

201 N Park Ave, Suite 301, 
Apopka, FL 
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Nivedita Jerath is a Neurologist in Apopka, Florida. Dr. Jerath and is rated as a Distinguished provider by MediFind in the treatment of Andermann Syndrome. Her top areas of expertise are Charcot-Marie-Tooth Disease, Sensorimotor Polyneuropathy, Hypokalemic Periodic Paralysis, Rhizotomy, and Microvascular Decompression. Dr. Jerath is currently accepting new patients.

 
 
 
 
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Advanced in Andermann Syndrome
Neurology
Advanced in Andermann Syndrome
Neurology

University Of Vermont Medical Center Inc

1 S Prospect St, 
Burlington, VT 
Languages Spoken:
English, Hindi
Offers Telehealth

Rup Tandan is a Neurologist in Burlington, Vermont. Dr. Tandan and 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.

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