Canavan Disease is an autosomal, recessive, degenerative disorder of the nerve cells of the brain. It is one of the most common degenerative cerebral diseases of infancy. Common symptoms of Canavan disease are:
• Intellectual disability
• Loss of previously acquired motor skills
• Abnormal muscle tone
• Feeding difficulties
• Poor head control
• Paralysis or seizures
HOW IS CANAVAN DISEASE DIAGNOSED?
Canavan disease can be diagnosed by a simple prenatal blood test that screens for the missing enzyme for mutations in the gene that controls aspartoacylase. Both parents must be carriers of the defective gene in order to have an affected child.
HOW IS CANAVAN DISEASE TREATED?
There is no cure, nor is there a standard course of treatment. Treatment is symptomatic and supportive. Supportive care may alleviate some discomfort. Physical therapy and early intervention may help to improve posture and communication skills, respectively. If swallowing difficulties occur, feeding tubes may be useful to ensure proper nutrition and hydration. Seizures may be treated with anti-seizure medications. Genetic counseling and carrier testing will benefit families in which this disease occurs.
DID YOU KNOW?
The central nervous system usually breaks down in this disease.