Krabbe disease is a genetic disorder that deals with the nervous system and is a type of leubodystrophy. It is rare and is caused by a defect in the GALC gene. This defect means there isn’t enough galactocerebroside beta-galactosidase in the body. This is the substance that makes the material that surrounds nerve fibers and protects them, a material called myelin. There are two forms, both that are inherited.
Forms
Early onset Krabbe disease appears in newborns. Patients typically die before 2 years of age. Late onset Krabbe disease arrives in late childhood or early adolescence.
Symptoms
Signs of early onset Krabbe disease include vomiting, fevers without explanation, vision loss that goes to blindness, seizures, irritability, sensitivity to loud noise, failure to thrive, feeding difficulties, hearing loss that goes to deafness, and changing muscle tone. Late onset Krabbe disease symptoms include vision problems, rigid muscles, and walking difficulties.
Diagnosis
Some of the tests that may be done include a retina exam to check for optic nerve damage and a physical exam to check posture and for signs of deafness. Other tests include nerve conduction velocity, head MRI, CSF total protein, blood tests, and testing for the GALC gene defect.
Treatment
There is not a treatment for this disease specifically, but some have bone marrow transplants. The outcome is poor, with many dying prior to turning two years of age. Those that have late onset Krabbe will survive to adulthood and have nervous system disease.
With the damage to the central nervous system, this disease can make one deaf, blind, and severely problematic to muscle tone.
Source: A.D.A.M.