Krabbe disease is a genetic disorder of the nervous system. Also known as globoid cell leukodystrophy, the condition's more common name comes from the neurologist who originally identified the disease in the early 1900s. Individuals suffering from Krabbe disease exhibit a specific set of symptoms from an early age. Although there is no known cure for the condition, there are experimental treatments that could be beneficial for Krabbe disease sufferers.
Knud Krabbe
Knud Haraldson Krabbe is the physician for whom Krabbe disease is named. Krabbe was a neurologist in Denmark in the early 1900s. Beginning in 1933, he served as the chief physician of the Kommune Hospital Neurology Department in Copenhagen, Denmark. Later in his life, Krabbe developed Parkinson's disease and died of the disorder in 1966. His pioneering work studying the fatal neurological problems of several Danish infants set the stage for the later work and understanding of Krabbe disease.
Krabbe's disease discovery
In 1916, Krabbe studied five young infants from two different, unrelated families who all displayed similar symptoms beginning between their 4th and 6th month of life. All of the infants suffered from violent spells of crying, progressive muscle stiffness, muscle spasms and seizures. The infants' condition gradually worsened, and all died. After studying the babies, Krabbe termed the disorder an "acute infantile familial diffuse brain sclerosis" -- an inheritable neurological disease. Later, physicians confirmed Krabbe's studies and renamed the condition after him.
Symptoms
Krabbe disease symptoms begin early in life, usually only a few months after birth. Affected infants will cry for long periods of time, have trouble feeding and suffer from bouts of vomiting. Their muscles will be stiff, and they will experience muscle spasms and sometimes seizures. Their motor control will lag far behind that of normally developing infants.
Causes
Physicians after Krabbe determined that Krabbe disease is caused by a defect in the gene that codes for the enzyme galactocerebrosidase or GALC. GALC is responsible for removing galactolipids from cells in the brain before their accumulation destroys myelin-producing cells. When galactolipids build up, sufficient myelin that forms sheaths around nerve cells is not produced for the neurological system to function properly.
Treatment
There is no known cure for Krabbe disease and no specific treatment that has been definitively identified as halting or slowing the progression of the disease. However, bone-marrow transplantation and cord-blood transfusion in infants diagnosed at birth and who have not yet begun to display the characteristic symptoms seem to decrease the severity of the condition when it does begin to surface.
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