It is defined as the hereditary disorder in which there is destruction of myelin sheath which is the protective covering of nerves and present throughout the nervous system. It is rare inherited disorder which developed in babies usually before 6 months of age.
Signs and symptoms of krabbe disease included:
- Muscle spasm
- Excessive crying in babies
- Feeding problems
- Delay development milestones
- Stiff and rigid posture
It is an autosomal recessive disorder which required two mutated gene from each parent to developed this disease. The function of mutated gene is to produce the enzyme galactocerebrosidase which required to destroy the certain substance accumulated in lysosome.
There are certain complications of this disease like respiratory problems and frequent infection. Infant usually die due to respiratory failure before the age of 2.
After taking history your doctor performs a physical examination to check the muscle tone and reflexes and recommend the following tests to confirm the diagnosis:
- Blood test to check the enzyme GALC level.
- Imaging test like MRI and CT scan to check the myelin sheath integrity.
- Genetic testing to check the mutation
- Nerve conduction test
There is no specific treatment available for this disease. You can give only symptomatic treatment to reduce the symptoms:
- Anti-seizures medicine to reduce the convulsions
- Drug to reduce the spasticity
- Physical therapy to stabilized the muscle tone