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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 increased muscle tone)
- 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 him or her 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.
- Krabbe disease. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=krabbedisease. Accessed April 15, 2009.
- Krabbe disease information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/krabbe/krabbe.htm. Accessed April 15, 2009.
- Duffner PK. The long-term outcomes of presymptomatic infants transplanted for Krabbe disease. Genetics in Medicine. In Press. Accessed April 15, 2009.
- 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.: McGraw-Hill Medical; 2009. http://www.accessmedicine.com/content.aspx?aID=3636356. Accessed April 15, 2009.
- Krabbe disease. United Leukodystrophy Foundation. http://www.ulf.org/types/krabbe.html. Accessed April 15, 2009.
- Sakai N. Pathogenesis of leukodystrophy for Krabbe disease: Molecular mechanism and clinical treatment. Brain and Development. In Press. Accessed April 15, 2009.
- Korn-Lubetzki I, et al. Infantile Krabbe disease. Archives of Neurology. 2003;60:1643.
- Husain AM. Krabbe disease: Neurophysiologic studies and MRI correlations. Neurology. 2004;63:617.
- Escolar ML, et al. Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease. New England Journal of Medicine. 2005;352:2069.
- Duffner PK, et al. Newborn screening for Krabbe disease: The New York State model. Pediatric Neurology. 2009;40:245.
