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What is Krabbe disease?

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Krabbe disease, also known as globoid cell leukodystrophy, destroys the myelin coating around nerve cells in the brain and nervous system. It is an inherited disease that typically develops in babies under 6 months of age, reports Mayo Clinic. When a baby receives a diagnosis at this age, death usually occurs by the age of 2 years. If the individual receives a diagnosis in late childhood or adulthood, the path of the disease varies greatly.

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Symptoms of Krabbe disease in infants include unexplained crying, irritability, fever with no sign of infection, feeding difficulties and declined alertness. Other symptoms include muscle spasms, frequent vomiting and loss of head control, lists Mayo Clinic. When the disease progresses, more severe symptoms, such as seizures, hearing and vision loss, and the loss of ability to swallow or breathe, may begin. Many of the early symptoms of Krabbe disease are the same as other early childhood illnesses or developmental issues, so it is imperative to receive an accurate diagnosis. In older children and adults, symptoms include vision loss, muscle weakness, ataxia, loss of manual dexterity and a decline in thinking skills.

Typically, the younger the individual is when diagnosed, the faster the disease progresses and the more likely it results in death. While there is no known cure for Krabbe disease, there has been some success in changing the course of the disease by treating individuals with stem cells before the onset of symptoms, according to Mayo Clinic.

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