Krabbe Disease is a rare inherited genetic disorder of the nervous system and this disease is passed down in families. People suffering from Krabbe Disease are unable to create enough of a substance called galactosylceramidase, which is needed to make myelin. As a result, the cells in the brain die and the nerves in the brain and other parts of the body don’t work in a proper manner. The most common symptoms of Krabbe Disease include feeding problems, loss of head control, seizures, deafness and blindness, difficulty in walking, poor hand coordination skills, and rigid muscles.
HOW IS KRABBE DISEASE DIAGNOSED?
Diagnosis of Krabbe Disease depends on the symptoms and physical examination. Neurologists may order for laboratory tests like blood sample and skin biopsy for assessing the level of GALC enzyme activity. An MRI or CT scan of the brain may confirm diagnosis. Nerve conduction study and genetic testing are other tests for Krabbe Disease.
HOW IS KRABBE DISEASE TREATED?
There is no treatment for Krabbe Disease, only symptomatic relief may be provided. Anti-convulsant medication may be given for controlling seizures. Drugs to ease muscle spasticity and irritability may be given
DID YOU KNOW?
Krabbe Disease is mostly developed in infants but it can develop later in life.