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Krabbe disease is a neurodegenerative lysosomal storage disorder with a classical infantile-onset and a late-onset form. About 85-90% of individuals with Krabbe disease have the infantile-onset form, and 10-15% have the late- onset form. Individuals with the infantile-onset form present with spasticity, hypertonia, developmental delay, and extreme irritability before the age of six months with a rapid progression and severe mental and motor regression. Eventually they progress into a decerebrate state with no voluntary movement and death, usually by 2 years of age. Late-onset patients can be asymptomatic until onset at 1 year to the fifth decade. Early signs may include vision loss, a decline in intellect, and loss of manual dexterity and weakness. The onset and course of the disease is variable, even between members of the same family.
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