Krabbe disease
How is it treated?
Although there is no specific cure for Krabbe disease, recently the results of umbilical cord blood transplantation from unaffected donors has been reviewed. Neonatal transplant of umbilical cord blood significantly modifies a severe disease when given to newborn infants who are known to carry two copies of the causal gene; however there are long term risks from the procedure and the appearance of Krabbe disease is not prevented by this treatment. Marrow transplantation may have a role in late onset or adult forms of the condition where it may prevent further progression of the established disease.
Treatment of infants who are diagnosed when significant symptoms are evident is limited to supportive care to control irritability and spasticity. Some symptoms, however, can be treated and physical therapy can help muscle tone.
How is it diagnosed?
| Inheritance patterns and prenatal diagnosis ![]()