Krabbe Disease—Leukodystrophies

The leukodystrophies are rare diseases that affect the cells of the brain. Specifically, the diseases affect the myelin sheath, the material that surrounds and protects nerve cells. Damage to this sheath slows down or blocks messages between the brain and the rest of the body. This leads to problems with

• Movement
• Speaking
• Vision
• Hearing
• Mental and physical development

Most of the leukodystrophies are genetic. They usually appear during infancy or childhood. They can be hard to detect early because children seem healthy at first. However, symptoms gradually get worse over time.

There are no cures for any of the leukodystrophies. Medicines, speech therapy and physical therapy might help with symptoms. Researchers are testing bone marrow transplantation as a treatment for some of the leukodystrophies.

NIH: National Institute of Neurological Disorders and Stroke

Krabbe disease (also called globoid cell leukodystrophy) is a degenerative disorder that affects the nervous system. It is caused by the shortage (deficiency) of an enzyme called galactosylceramidase. This enzyme deficiency impairs the growth and maintenance of myelin, the protective covering around certain nerve cells that ensures the rapid transmission of nerve impulses. Krabbe disease is part of a group of disorders known as leukodystrophies, which result from the loss of myelin (demyelination). This disorder is also characterized by the abnormal presence of globoid cells, which are globe-shaped cells that usually have more than one nucleus.The symptoms of Krabbe disease usually begin before the age of 1 year (the infantile form). Initial signs and symptoms typically include irritability, muscle weakness, feeding difficulties, episodes of fever without any sign of infection, stiff posture, and slowed mental and physical development. As the disease progresses, muscles continue to weaken, affecting the infant’s ability to move, chew, swallow, and breathe. Affected infants also experience vision loss and seizures.Less commonly, onset of Krabbe disease can occur in childhood, adolescence, or adulthood (late-onset forms). Visual problems and walking difficulties are the most common initial symptoms in this form of the disorder, however, signs and symptoms vary considerably among affected individuals.