Enfermedad de Krabbe

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Enfermedad de Krabbe

Nombres alternativos:

Leucodistrofia de las células globoides; Deficiencia de galactosilcerebrosidasa; Deficiencia de galactosilceramidasa

Síntomas:

Enfermedad de Krabbe de inicio temprano:

Enfermedad de Krabbe de inicio tardío:

Los problemas de visión pueden aparecer primero, seguidos de dificultades para caminar y músculos rígidos. Los síntomas varían de una persona a otra y se pueden presentar otros síntomas.

Signos y exámenes:

El examen de la retina en el ojo puede mostrar daño al nervio óptico. En las etapas avanzadas del trastorno, puede haber signos de sordera y postura anormal .

Los exámenes que se pueden hacer abarcan:

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