Canavan Disease

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Canavan disease is a rare neurodegenerative disease characterized by the degeneration of white brain matter. Canavan disease is characterized by a defective ASPA gene that ordinarily aids in breaking down N-acetylaspartic acid (NNA). Infants with this condition typically appear normal at birth but develop symptoms between three and six months. Symptoms include being unable to hold up the head, sit up, crawl or even form words. Some children may have enlarged heads (macrocephaly), have diminished muscle tone (hypotonia) leading to “floppiness” and act lethargic or irritable. Treatment varies based on each individual affected and typically targets specific symptoms present. Treatment may also involve physical therapy, genetic counseling, family carrier testing and anti-seizure medication. Because Canavan disease is progressive, function decreases in children as they age. Depending on the severity of diagnosis, some children may experience fatal symptoms early on while others may live beyond their teenage years.
Information provided by our partners Canavan Disease Research and NORD.

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