Essay On Krabbe Disease

Krabbe disease is a rare, inherited degenerative disorder of the central and peripheral nervous systems. It is characterized by the presence of globoid cells (cells that have more than one nucleus), the breakdown of the nerve’s protective myelin coating, and destruction of brain cells. Krabbe disease is one of a group of genetic disorders called the leukodystrophies. These disorders impair the growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers, and cause severe deterioration of mental and motor skills. Myelin, which lends its color to the “white matter” of the brain, is a complex substance made up of at least 10 different enzymes. Each of the leukodystrophies affects one (and only one) of these substances. Krabbe disease is caused by a deficiency of galactocerebrosidase, an essential enzyme for myelin metabolism. The disease most often affects infants, with onset before age 6 months, but can occur in adolescence or adulthood. Symptoms include irritability, unexplained fever, limb stiffness, seizures, feeding difficulties, vomiting, and slowing of mental and motor development. Other symptoms include muscle weakness, spasticity, deafness, and blindness.
People who develop Krabbe disease later in life may have less severe symptoms than infants who get the disease. Symptoms of early-onset Krabbe disease include; feeding problems, fevers, persistent vomiting, loss of head control, irritability and excessive crying, poor coordination of movement or stiffness, seizures, muscle spasms mostly in the arms and legs, changes in muscle tone, deterioration of mental and motor function, deafness and blindness. Late-Onset Krabbe Disease symptoms are; progressive loss of vision leading to blindness, difficulty walking, poor hand coordination, muscle weakness or rigid