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Krabbe disease

Krabbe disease is a rare disorder of the central nervous system. It is one of a group of genetic disorders, which are called leukodystrophies, which affect the growth of the myelin sheath. The myelin sheath is a fatty covering acting as an insulator on the nerve fibers of the brain. Symptoms vary in severity among patients and include unexplained fevers, irritability, seizures, blindness, spasticity and paralysis. The disorder generally occurs from 3-6 months of age bur teens and adult patients are known.

Globoid Cell Leukodystophy (GLD) has two distinctive forms, infantile and adult. Infantile accounts for 85% to 90% of all occurrences. It is usually diagnosable between 6 months

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This is because of damage to myelin of motor neurons. Symptoms start before 6 months, though they appear normal in first few months of life.

Stage 2 is a more accelerated from of stage 1’s symptoms. Muscle stiffness, retardation of mental development, and unexplained fevers that are not due to infection. However, many die by the age of 8 months due to infection and respiratory failure. Such as ability to lift its head, roll over or breast feed. In the adult form, symptoms are usually similar to infants. Seizures become observable, though they are often not violent and some times confined just to the limbs or torso. In one case, there was an 84 year old woman who was diagnosed with the disease who had no symptoms of the disease earlier in life.

By stage 3, the infant has become completely blind, has no voluntary movement, and has no way to interact with its surroundings.

In the adult from, patients are normal until the actual symptoms occur. Patients diagnosed with disease in adolescence or adult hood usually show signs earlier in life but can degrade any time. Most of these symptoms are in the nervous system, and other than seizures, there are few other physical symptoms.

Approximate Word count = 476
Approximate Pages = 2 (250 words per page double spaced)

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