genetic

Krabbe disease

Krabbe disease (KD) is a rare and often fatal storage disease that results in progressive damage to the nervous system. KD involves dysfunctional of sphingolipids and is inherited in an pattern. The disease is named after Danish neurologist Knud Krabbe (1885–1961).

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Symptoms — what it feels like

·Infancy: Developmental delay, irritability, spasticity, hypotonia, microcephaly, optic
·Juvenile: Muscle weakness, vision loss, developmental regression
·Adult: Burning paresthesias in , loss of manual dexterity, muscle weakness, , muscle

Causes — why it happens

· of GALC gene

How it's found

·Histopathology, testing

Prevention

· and of at-risk couples

Treatment

· and supportive treatment only, but stem cell may be beneficial

Outlook

·One-, two-, and three-year survival rates of 60%, 26%, and 14%, respectively

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Plain-language summary adapted from Wikipedia. Not medical advice.