Canavan disease
Canavan disease is a rare inherited disorder that damages the ability of nerve cells (neurons) in the brain to send and receive messages. This disease is one of a group of genetic disorders called leukodystrophies. Canavan disease is caused by mutations in the ASPA gene.
Pronunciation
Canavan disease is pronounced as kuh-NA-vuhn disease.
Etymology
The disease is named after Myrtelle Canavan, an American pathologist who first described the condition in 1931.
Symptoms
Symptoms of Canavan disease, which appear in early infancy and progress rapidly, may include mental retardation, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (floppiness or stiffness), poor head control, and megalocephaly (abnormally enlarged head). Paralysis, blindness, or seizures may also occur.
Cause
Canavan disease is caused by mutations in the ASPA gene. The ASPA gene provides instructions for producing the enzyme aspartoacylase, which is concentrated in the brain. Mutations in the ASPA gene reduce or eliminate the function of aspartoacylase, preventing these cells from maintaining normal myelin.
Diagnosis
Diagnosis of Canavan disease is based on physical examination, genetic testing, and the presence of characteristic findings on magnetic resonance imaging (MRI) of the brain.
Treatment
There is no cure for Canavan disease. Treatment is symptomatic and supportive. Physical therapy may help to improve motor skills and prevent contractures (fixed tightening of muscles). Supportive treatments may include feeding tubes to help with nutritional needs and medications to control seizures and muscle stiffness.
Prognosis
The prognosis for individuals with Canavan disease is poor. Most children with the condition die before age 10, although some survive into their teens and beyond.
See also
External links
- Medical encyclopedia article on Canavan disease
- Wikipedia's article - Canavan disease
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