Canavan Disease

Canavan disease is a rare neurological disorder of genetic origin that affects the development of the nervous system by altering the substance that covers and protects the brain's nerve fibers.

How it presents: It generally becomes apparent in the first months of life, with delayed motor development, low muscle tone, difficulty holding the head up, and an increase in head size.

Origin: It is hereditary and is passed on when both parents carry the related genetic alteration.

Which specialist treats it? Its evaluation falls to the neurologist, in close collaboration with the genetics specialist and with support from pediatrics. When a baby has significant developmental delays, seeking early specialized care facilitates a careful evaluation and support for the family.