What is the life expectancy of someone with Canavan disease?
Prognosis. Prognosis is variable. In severe Canavan disease, life expectancy is reduced with average survival until 10 years or occasionally longer. In mild Canavan disease, life expectancy is usually normal and the prognosis is good.
What causes Canavan’s disease?
Canavan disease is caused by mutation in the gene for an enzyme called aspartoacylase, which acts to break down the concentrated brain chemical known as N-acetyl-aspartate. Symptoms of Canavan disease usually appear in the first 3 to 6 months of life and progress rapidly.
Can Canavan’s disease be treated?
There is no cure, nor is there a standard course of treatment. Treatment is symptomatic and supportive. Canavan disease causes progressive brain atrophy.
What are the symptoms Canavan disease?
The disorder usually becomes apparent between 3 and 6 months of age and the initial symptoms usually include extremely poor head control, an abnormally large head (macrocepahly), and severely diminished muscle tone (hypotonia) resulting in “floppiness.” Affected infants may be generally unresponsive (apathetic).
Who is most likely to get Canavan?
Frequency. While this condition occurs in people of all ethnic backgrounds, it is most common in people of Ashkenazi (eastern and central European) Jewish heritage. Studies suggest that this disorder affects 1 in 6,400 to 13,500 people in the Ashkenazi Jewish population. The incidence in other populations is unknown.
Can Canavan disease be detected before birth?
Can Canavan Disease be prenatally diagnosed? Prenatal genetic diagnosis is possible by this method, and genetic counseling is recommended for prospective parents who have a family history of Canavan Disease. Parents can also be screened to see if they are carriers of the disease.
How many people have Canavan’s disease?
Frequency. While this condition occurs in people of all ethnic backgrounds, it is most common in people of Ashkenazi (eastern and central European) Jewish heritage. Studies suggest that this disorder affects 1 in 6,400 to 13,500 people in the Ashkenazi Jewish population.
How is Canavan diagnosed?
How is this condition diagnosed? A prenatal blood test can reveal whether the fetus has Canavan disease. If you carry the Canavan gene mutation, you may want to discuss genetic testing prior to becoming pregnant. If you’re already pregnant, you may want to have the blood test done to see if your baby has been affected.
What are other names for Canavan disease?
Canavan disease, or Canavan-Van Bogaert-Bertrand disease, is a rare and fatal autosomal recessive degenerative disorder that causes progressive damage to nerve cells and loss of white matter in the brain.