The recent Powerball lottery win by a Minnesota couple has put the rare disorder Krabbe disease in the spotlight. The win for Paul and Sue Rosenau came five years to the day that a two-year-old granddaughter of theirs died of Krabbe disease, a disorder of the nervous system.
The couple says it has been working to make testing for Krabbe disease part of routine medical screening for newborns.
Krabbe disease, which is also called globoid cell leukodystrophy, is a degenerative disorder caused by a deficiency of an enzyme involved in the growth and maintenance of myelin, a substance that acts as a sheath or protective covering around some nerve cells in the body, similar to the way the plastic coating on electrical wire helps protect the wire and enable it to transmit electricity.
For a clear layman's explanation of Krabbe disease, check out the entry from the Medline Plus medical encyclopedia.
According to the U.S. government's Genetics Home Reference Web page on the disorder, Krabbe disease usually is seen by the age of one in babies, with symptoms including fever, irritability, muscle weakness, and difficulties in feeding. You can find more information at that Web site, as well as at another government Web page from the National Institute of Neurological Disorders and Stroke, which defines the illness, gives signs and symptoms, and describes treatment and prognosis.
The Web site eMedicine.com has a more scientific look at Krabbe disease, for readers with a more thorough understanding of medicine.
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