What are the main symptoms of Canavan disease?
The infantile form is the most common and most severe form of Canavan disease. Symptoms can be very different from one person to another. Symptoms often become apparent between 3 and 6 months of age. Affected infants often have trouble with rolling over, holding their head up, or sitting up without assistance. Other symptoms may include having a large head (macrocephaly), having low muscle tone (hypotonia), being irritable, and delays in learning to interact socially, smile, or laugh. As affected infants age, low muscle tone may change to increased muscle tone leading to muscle stiffness and difficulties with movement. Affected infants may have damage to the optic nerve (optic atrophy). The optic nerve transmits nerve impulses from the eye to the brain where they are changed to images. Damage to the optic nerve results in progressive loss of vision. Children with Canavan disease may have feeding difficulties, gastroesophageal reflux, seizures, and problems sleeping. They may have problems with swallowing. Some children will never walk or talk. Despite these issues children learn to interact socially, laugh, smile, and reach for objects.
People who have the mild/juvenile form of Canavan disease may not meet developmental milestones in speech and movement as quickly as other children their age. Some of these children may benefit from tutoring and speech therapy. However, the symptoms may be so mild that they are never diagnosed with Canavan disease.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/canavan-disease/symptoms/8498 • DATE UPDATED: 2016-06-17
Matalon, R, Michals-Matalon K. GeneReviews website. Updated August 11, 2011. Retrieved April 29, 2016, from http://www.ncbi.nlm.nih.gov/books/NBK1234/
Matalon R, Michals-Matalon K. Canavan Disease. In: Rosenberg RN, Pascual JM, eds. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease. 5th edition. Philadelphia, PA:Elsevier, Inc.;2015.