Canavan disease

Overview

What is Canavan disease?

Canavan disease is a rare genetic condition that damages the ability of nerve cells (neurons) in the brain to send and receive messages. People with this disorder lack an enzyme that is essential for the growth and maintenance of myelin. Myelin is a covering or "sheath" that coats, protects, and insulates nerve fibers. Collectively, myelin-covered nerve fibers are known as the white matter. Canavan disease can be separated into a severe infantile form and a milder juvenile form.

The infantile Canavan disease is the most common and most severe form of the condition. Affected infants appear normal for the first few months of life, but by age 3 to 5 months, problems with development become noticeable. These infants usually do not develop motor skills such as turning over, controlling head movement, and sitting without support. Other common features of this condition include weak muscle tone (hypotonia), an unusually large head size (macrocephaly), and irritability. Feeding and swallowing difficulties, seizures, and sleep disturbances may also develop. The juvenile form of Canavan disease is less common. Affected individuals have mildly delayed development of speech and motor skills starting in childhood. These delays may be so mild and nonspecific that they are never recognized as being caused by Canavan disease.

The life expectancy for people with Canavan disease varies. Most people with the neonatal/infantile form live only into childhood, although some survive into adolescence or beyond. People with the mild/juvenile form do not appear to have a shortened lifespan.

References
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Are there other names for Canavan disease?

How common is Canavan disease?

What is the usual abbreviation for Canavan disease?

Are there other names for Canavan disease?

Canavan disease is known by several other names including,

  • Aspartoacylase deficiency
  • ASPA deficiency
  • ASP deficiency
  • Aminoacylase 2 deficiency
  • ACY2 deficiency
  • Canavan-van Bogaert-Bertrand disease
  • Canavan's leukodystrophy
  • van Bogaert-Bertrand disease
References
How common is Canavan disease?

As with many rare disorders, the incidence and prevalence of Canavan disease is not known. The disorder can affect people of any ethnicity, but occurs in people of Eastern European (Ashkenazi) Jewish heritage more frequently, where it is estimated to occur in about 1 in 6,400 to 1 in 13,500 people. The carrier rate in this population is about 1 in 40-82 people. Canavan disease is believed to be far less common in people of other ancestries. In people of other ancestries, it is estimated to affect about 1 in 100,000 people.

References
  • Canavan Disease. Genetic Home Reference website. Retrieved April 29, 2016, from http://ghr.nlm.nih.gov/condition/canavan-disease
  • Matalon R, Michals-Matalon K. Canavan Disease. In: Rosenberg RN, Pascual JM, eds. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease. 5th edition. Philadelphia, PA:Elsevier, Inc.;2015.
  • Matalon R, Michals-Matalon K. GeneReviews website. Updated August 11, 2011. Retrieved April 29, 2016, from http://www.ncbi.nlm.nih.gov/books/NBK1234/
What is the usual abbreviation for Canavan disease?

The common abbreviation for Canavan disease is CD.

References

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