Krabbe disease refers to a rare, inherited degenerative disorder of the peripheral and central nervous system. It manifests in the form of globoid cells i.e. cells that have more than one nucleus, destruction of brain cells and the breakdown of the nerve’s protective layer called myelin.
This disease is one among a group of genetic disorders that are referred to as leukodystrophies. This group of disorders hinders the growth or development of the myelin sheath. This sheath is a fatty covering that performs the duties of an insulator around the nerve fibres and leads to severe deterioration of mental as well as motor skills.
Krabbe disease most commonly affects infants before they are 6 months old. The disease can also occur in adolescence or adulthood. Some common symptoms of krabbe disease include unexplained fever, irritability, seizures, limb stiffness, slowing of mental as well as motor development, muscle weakness, deafness, blindness, spasticity and feeding difficulties.
The prognosis for krabbe disease depends on the age at which it begins. It is generally fatal before the age of 2 years. The prognosis of the disease may get significantly better for those children who receive umbilical cord blood stem cells before the disease starts developing or early bone marrow transplantation. Those people who have juvenile or adult-onset krabbe disease tend to experience a milder course of the disease and have been observed to live comparatively longer.
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Causes of Krabbe Disease are deficiency of galactocerebrosidase, an essential enzyme for myelin metabolism.read more
Krabbe disease is a rare, inherited degenerative disorder of the central and peripheral nervous systems that destroys the myelin, a protective coating of nerve cells inside the brain and throughout the nervous system.read more