Krabbé Disease : Progression of Krabbe Disease

Progression of Krabbe Disease

There are four clinical forms of Krabbe's disease, based on when symptoms of the disease occur.Type 1: Infantile: begins at age 3 - 6 months Type 2: Late infantile: begins at age 6 months - 3 years Type 3: Juvenile: begins at age 3 - 8 years Type 4: Adult onset: begins any time after 8 years of age There is progressive damage to the central and peripheral nervous systems resulting in weakness, abnormal muscle tone, immobility, blindness, deafness,and seizures. Complications of this include infection and respiratory failure which are responsible for most deaths.

How is Krabbe Disease Diagnosed?

Galactocerebroside beta-galactosidase levels (levels can be measured from the serum, white blood cells, chorionic villi, and fibroblasts).

CSF total protein may be increased

MRI of the head is the best test to reveal abnormal white matter of the brain

CT of the head

Nerve conduction velocity showing delayed nerve conduction and evidence of demyelination

Presence of abnormal Globoid cells in biopsy tissue of the nervous system

Genetic testing may be available for the glycosylceramidase gene (GALC)

Prognosis of Krabbe Disease

Prognosis is generally poor, but varies depending on the subtype of disease. Most patients with the infantile and late infantile forms of Krabbe's disease will die within 2 years of disease onset. In the juvenile and adult forms disease may not be as severe, and life expectancy may be improved.

How is Krabbe Disease Treated?

There is no specific treatment for Krabbe disease. Bone marrow transplantation (with its own risks) has been attempted in early stages of the disease. It is too early to know if the new bone marrow can fully restore the brain to health in the small number of patients who have had this treatment.In the future there may be 'enzyme replacement therapy', but it is in the early stages of development as of 2003. Prevention by prenatal or genetic testing is available.Genetic counseling is recommended for prospective parents with a family history of Krabbe disease. Whether you are a carrier for the disease can be determined by testing your white blood cells or skin cells for decreased galactocerebroside beta-galactosidase levels. Prenatal diagnosis is possible by measuring galactocerebroside beta-galactosidase levels in cultured amniotic fluid cells or from cultured chorionic villi cells. 

readd more ;  

Krabbé Disease :What is Krabbe Disease, Is there any treatment?