Causes

• Krabbe disease develops when a child inherits a certain defective gene from both parents. The defective gene causes a deficiency of galactocerebrosidase, an enzyme that helps maintain the coating that insulates the nerve fibers. Deficiency of this enzyme causes difficult muscle movement and low muscle tone. If only one parent is a carrier, it may be passed on to you. In this instance, the child will only be a carrier and will never develop the symptoms or complications of the disease.
  
  

Symptoms

• There are two types of Krabbe disease that come with different symptoms. Early-onset Krabbe disease develops during the first few months of an infant's life. Some of the symptoms include feeding difficulties, vomiting, irritability, fevers, seizures, stiff limbs, spasms, unexplained crying, and lack of control of the head. Late onset of this disease occurs during late childhood or early adulthood. The symptoms are difficulty walking or moving, vision difficulties and loss of manual dexterity.
  
  

Complications

• There are many complications that can arise from Krabbe disease. Blindness, respiratory problems, and infections are all factors. In the end stages of this disease, most patients fall into a vegetative state and are confined to bed, unable to move. According to the Mayo Clinic website, the disease ends in death due to the inability to move or from respiratory failure.
  
  

Diagnosis

• A series of tests are administered to test for Krabbe disease. These include CT scans, an MRI, nerve conduction tests, genetic tests and an eye examination. The CT scan, MRI, and eye examination all test for nerve deterioration. The genetic test checks for the defective gene and is usually the most precise examination. A test can also be done before the child is born. The physician will test the amniotic fluid around the fetus for the gene.
  
  

Treatment

• There is no cure for Krabbe disease. The treatment available is used to ease the symptoms and help you live more comfortably. These treatments include bone marrow transplants, which may help slow the process of the disease, and a cord-blood transfusion, which may help the development of the enzymes that create muscle tone and movement to prevent this disease. It is not always successful and helps only before the child begins showing signs of the disease.