Krabbé disease is a rare, degenerative disorder of the central and peripheral nervous systems. It is one of a group of genetic disorders called the leukodystrophies that affect the growth of the myelin sheath, the fatty covering-which acts as an insulator-on nerve fibers in the brain. Symptoms vary in prevalence and severity among patients and may include loss of previously attained developmental skills, unexplained fevers, irritability, myoclonic seizures (sudden, shock-like contractions of the limbs), blindness, spasticity (stiffness of the limbs), and paralysis. Prolonged weight loss may occur also. Onset of the disorder generally occurs at 3 to 6 months of age, but juvenile and even adult-onset patients are known.
Although there is no cure for Krabbé disease, bone marrow transplantation has been shown to have benefit for mild cases early in the course of the disease. Generally, treatment for the disorder is symptomatic and supportive. Physical therapy may help maintain or increase muscle tone and circulation.