Canavan Disease
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Canavan Disease Overview

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Learn About Canavan Disease

What is the definition of Canavan Disease?
Canavan disease is a progressive, fatal, genetic disorder affecting the central nervous system, muscles, and eyes. Early symptoms in infancy may include increased head size, weakness, low muscle tone and loss of head control. Symptoms progress to seizures, blindness, inability to move voluntarily and difficulty eating solids or swallowing liquids. This condition is caused by changes in the ASPA gene and is inherited in an autosomal recessive pattern. Canavan disease is diagnosed based on symptoms, laboratory testing, and genetic testing.
What are the alternative names for Canavan Disease?
  • Canavan disease
  • ACY2 deficiency
  • ASP deficiency
  • ASPA deficiency
  • Aminoacylase 2 deficiency
  • Aspartoacylase deficiency
  • Canavan-van Bogaert-Bertrand disease
  • Spongy degeneration of the central nervous system
  • Von Bogaert-Bertrand disease
Who are the top Canavan Disease Local Doctors?
Elite in Canavan Disease
Dr. Florian Eichler
Pediatric Neurology
Elite in Canavan Disease
Dr. Florian Eichler
Pediatric Neurology

Massachusetts General Hospital

55 Fruit St, 
Boston, MA 
617-726-6093
Languages Spoken:
English
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Florian Eichler is a Pediatric Neurologist in Boston, Massachusetts. Dr. Eichler is rated as an Elite provider by MediFind in the treatment of Canavan Disease. His top areas of expertise are Adrenoleukodystrophy (ALD), CACH Syndrome, Tay-Sachs Disease, Gangliosidosis, and Gastrostomy.

Elite in Canavan Disease
Annette E. Bley
Elite in Canavan Disease
Annette E. Bley
Martini Str. 52, 
Hamburg, HH, DE 

Annette Bley practices in Hamburg, Germany. Ms. Bley is rated as an Elite expert by MediFind in the treatment of Canavan Disease. Her top areas of expertise are Canavan Disease, CACH Syndrome, Leukodystrophy, and Metachromatic Leukodystrophy.

 
 
 
 
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Elite in Canavan Disease
Dr. David Pleasure
Neurology
Elite in Canavan Disease
Dr. David Pleasure
Neurology

Shriners Children's-Northern California

2425 Stockton Blvd, 
Sacramento, CA 
916-453-2331
Languages Spoken:
English
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David Pleasure is a Neurologist in Sacramento, California. Dr. Pleasure is rated as an Elite provider by MediFind in the treatment of Canavan Disease. His top areas of expertise are Canavan Disease, CACH Syndrome, Leukodystrophy, and Multiple Sclerosis (MS).

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What are the latest Canavan Disease Clinical Trials?
The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network
The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network
Enrollment Status: Recruiting
Publish Date: October 23, 2025

Summary: The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago. Researchers working in the biorepo...

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Who are the sources who wrote this article ?

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