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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 degenerative cerebral diseases of infancy. [3]
Canavan's disease is initially recognized by the appearance of symptoms, yet further examinations are needed for definitive diagnosis. Neuroimaging techniques such as Computed Tomography (CT) scan or Magnetic Resonance imaging (MRI) are typically used to detect the presence of degenerative subcortical white matter . [ 26 ]
About Canavan Disease Affecting approximately 1,000 children in the U.S. and European Union, Canavan disease is an ultra-rare, disabling and fatal disease with no approved therapy. Most children are not able to meet developmental milestones, are unable to crawl, walk, sit or talk, and die at a young age.
Canavan disease is a less-studied type of leukodystrophy that, like MLD and Krabbe disease, is also inherited in an autosomal recessive pattern. It is due to a mutation in the ASPA gene that encodes aspartoacylase , an enzyme needed to metabolize N-acetyl-L-aspartate (NAA).
A rare disease is technically defined ... Camurati–Engelmann disease; Canavan disease; Carcinocythemia; Carcinosarcoma; Cardiocranial syndrome, Pfeiffer type;
Orphanet is an online database with the goal of gathering, providing and improving knowledge on rare diseases and to improve the diagnosis, care and treatment of patients with rare diseases. By listing rare diseases, and maintaining a standard nomenclature of rare diseases (ORPHAcodes), Orphanet contributes to making them more visible in health ...
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive late-onset heredodegenerative multisystem neurological disease. The symptoms include poor balance and difficulty walking. Chronic cough and difficulty swallowing may also be present.
Batten disease; Behr syndrome; Berdon syndrome; Bernard–Soulier syndrome; Beta-ketothiolase deficiency; Beta-mannosidosis; Bietti's crystalline dystrophy; Biotin-thiamine-responsive basal ganglia disease; Biotinidase deficiency; Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome; Bloom syndrome; Blue diaper syndrome; Boucher ...