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Symptoms
By Mayo Clinic staff
Early-onset Krabbe disease
In the more common form of Krabbe disease, which develops in the first months of life, signs and symptoms often include:
- Feeding difficulties
- Unexplained crying
- Loss of head control
- Fevers
- Vomiting
- Extreme irritability
- Changes in muscle tone (limb and muscle stiffness, poor coordination of movements)
- Seizures
- Progressive loss of hearing and sight
- Spasticity (presence of spasms or consistently contracted muscles)
- Loss of developmental milestones
Late-onset Krabbe disease
When children have the late-onset form of the disease — which develops later in childhood or in adolescence — they may experience the signs and symptoms above, as well as other signs that may include:
- Visual impairment progressing to blindness, which may be the initial sign
- Difficulty walking (called ataxia or gait disturbances)
- Loss of manual dexterity
As a general rule, the younger the age that Krabbe disease occurs, the faster it progresses. Some people diagnosed during adolescence or adulthood may have less-severe symptoms, with muscle weakness as a primary symptom. They may have no impairment of their cognitive abilities.
When to see a doctor
If you notice symptoms in your child that could indicate the presence of Krabbe disease — such as seizures or limb stiffness — have your child evaluated by your doctor. If your doctor suspects Krabbe disease, he or she will refer you to a specialist with expertise in the diagnosis and management of this disorder. That specialist can discuss the available treatment options with you. Because this condition can progress quickly, it's important to see a doctor promptly if you suspect the disease is present.
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- Krabbe disease information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/krabbe/krabbe.htm. Accessed April 20, 2011.
- Duffner PK. The long-term outcomes of presymptomatic infants transplanted for Krabbe disease. Genetics in Medicine. 2009;11:450.
- Ropper AH, et al. Inherited metabolic diseases of the nervous system. In: Ropper AH, et al. Adams and Victor's Principles of Neurology. 9th ed. New York, N.Y.: The McGraw-Hill Companies; 2009. http://www.accessmedicine.com/resourceTOC.aspx?resourceID=54. Accessed March 3, 2011.
- Krabbe disease. United Leukodystrophy Foundation. http://www.ulf.org/types/krabbe.html. Accessed April 20, 2011.
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- Duffner PK, et al. Newborn screening for Krabbe disease: The New York state model. Pediatric Neurology. 2009;40:245.
- Kemper AR, et al. Weighing the evidence for newborn screening for early-infantile Krabbe disease. Genetics in Medicine. 2010;12:539.
- National newborn screening status report. National Newborn Screening and Genetics Resource Center. http://genes-r-us.uthscsa.edu/nbsdisorders.pdf. Accessed April 20, 2011.
- Wenger DA. Krabbe disease. In: Pagon RA, et al. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1238/. Accessed April 20, 2011.
- Renaud DL (expert opinion). Mayo Clinic, Rochester, Minn. May 3, 2011.
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