Canavan disease - Wikipedia
Canavan disease, or Canavan–Van Bogaert–Bertrand disease, is a rare and fatal autosomal recessive [1] degenerative disease that causes progressive damage to nerve cells and loss of white matter in the brain. [2] It is one of the most common …
Canavan Disease - Symptoms, Causes, Treatment | NORD
Sep 24, 2024 · Canavan disease is a rare genetic neurological disorder characterized by the spongy degeneration of the white matter in the brain. Affected infants may appear normal at birth, but usually develop symptoms between 3-6 months of age.
Canavan Disease: Canavan Syndrome - Cleveland Clinic
Canavan disease is a rare genetic disorder that affects your brain’s white matter. The infantile type usually causes severe complications and early death. The juvenile type often involves only minor developmental delays.
Canavan disease | About the Disease | GARD - Genetic and Rare …
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.
Canavan Disease - StatPearls - NCBI Bookshelf
Jul 3, 2023 · Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, is a rare, progressive, and fatal neurological hereditary disorder that begins in infancy. It is part of a group of genetic diseases referred to as leukodystrophies.
Canavan disease - MedlinePlus
Canavan disease is a rare inherited disorder that damages the ability of nerve cells (neurons) in the brain to send and receive messages. Explore symptoms, inheritance, genetics of this condition.
Aspartoacylase deficiency (Canavan disease) - UpToDate
Mar 19, 2024 · Aspartoacylase deficiency (Canavan disease; MIM #271900) is an autosomal recessive spongiform leukodystrophy that is prevalent in, but not restricted to, Ashkenazi Jewish individuals. The disease typically begins in infancy and is marked by relentless progression.
Spongy degeneration of the central nervous system - Wikipedia
Spongy degeneration of the central nervous system, also known as Canavan's disease, Van Bogaert-Bertrand type or Aspartoacylase (AspA) deficiency, is a rare autosomal recessive neurodegenerative disorder. [1] .
Leukodystrophy - National Institute of Neurological Disorders and Stroke
Aug 1, 2024 · Canavan disease is a neurological disorder in which parts of the brain develop into spongy tissue full of small fluid-filled spaces, causing progressive brain atrophy. There is no cure, nor is there a standard course of treatment.
Canavan Disease - GeneReviews® - NCBI Bookshelf
Sep 16, 1999 · Canavan disease is a leukodystrophy characterized by neurodevelopmental delays, macrocephaly, and tone abnormalities. The phenotypic spectrum ranges from the more severe typical Canavan disease (85%-90% of individuals) to the less severe atypical Canavan disease (10%-15%).