Canavan disease is a gene-linked neurological disorder that results in brain tissue degeneration. It is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain, and is one of the most common degenerative cerebral diseases of infancy.
It is caused by a deficiency of the enzyme aminoacylase 2, and is one of a group of genetic diseases referred to as leukodystrophies.
Symptoms of Canavan disease usually appear during the first 3 to 6 months of life and unfortunately progress rapidly. Symptoms include;
- Lack of motor development
- Abnormal muscle tone
- Difficulty feeding
- An abnormally large head that has poor muscle control
Some children develop the following symptoms;
- Hearing loss
- Appear as apathetic
There is no cure for Canavan disease. The goal of treatment is to reduce the child’s symptoms and improve their quality of life.
The child’s treatment plan will vary depending on their individual symptoms. The child’s pediatrician will work with the parents and the child to determine how to best meet their needs.
Physical therapy and adaptive equipment may be helpful in promoting better posture. Lithium or other medications may be helpful in controlling seizures.
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