Globoid Cell Leukodystrophy

Globoid cell leukodystrophy, also known as Krabbe disease, is a rare inherited disorder that affects the substance that coats and protects the nerve fibers of the nervous system, disrupting the transmission of impulses.

Origin: It is caused by a genetic alteration that prevents certain fats present in nerve tissue from being processed correctly, which affects its development and function.

Possible manifestations: It may present with changes in muscle tone, irritability, difficulties in motor development, and other neurological alterations that vary from person to person.

Whom to see? The neurologist, often supported by genetics specialists, is the one who studies this type of condition. In the face of signs that cause concern, it is advisable to seek a specialized medical evaluation that allows a better understanding of each patient's situation.