Krabbe disease is a neurological disease that affects the myelin sheaths that surround the neuronal axons in the central nervous system. Also called globoid cell leukodystrophy, it is a very rare disease, which affects only one in one hundred thousand people. It was first discovered by the Danish neurologist, Knud Haraldsen Krabbe. The underlying cause of it is genetic. It is a degenerative and potentially fatal disease with symptoms including everything from fever and vomiting, to blindness and deafness. Although the underlying genetic disease cannot yet be cured there are treatments available to help alleviate the symptoms.
In most types of properly functioning neurons a myelin sheath surrounds the long axon that projects away from the cell body. This substance, made of lipid and protein, is thought to improve the conduction speed of neuronal impulses. Without it many neurological deficits can result. In the case of Krabbe disease there is an autosomal recessive genetic problem that involves mutation in the GALC gene. As a result of this a deficiency appears in the enzyme galactosylceramidase, which leads to a neuronally damaging lipid build-up.
The first symptoms of Krabbe disease appear between around three and six months of age. There are a variety of symptoms, which could include fever, vomiting, and irritability, for example, as well as well stiffness and seizures. There are also other versions of Krabbe disease that see a later onset, during later childhood, or perhaps even in adulthood.
The key symptoms of Krabbe disease are really those affecting development such as retarded mental development and degraded motor skills. As the disease progresses many more symptoms may appear. This can include blindness and deafness, for example, as well as weak muscles, paralysis, and swallowing difficulties. During the early stages of the disease the various symptoms could be mistaken for many other illnesses, particularly cerebral palsy.
Treatment for the underlying genetic condition is not possible yet although ultimately gene therapy should become a possibility. However, treatments do exist to help with the symptoms of Krabbe disease. One possible treatment involves the use of a bone marrow transplant, particularly if this is provided early in development. The main treatment, though, is by way of physical therapy. This kind of therapy is aimed at helping movement and functioning in the face of disease and injury. In the case of Krabbe disease it is aimed at helping with circulation and muscle tone in particular.