Krabbe disease - Symptom
Globoid cell leukodystrophy; Galactosylcerebrosidase deficiency; Galactosylceramidase deficiency
Early-onset Krabbe disease:
- Changing muscle tone from floppy to rigid (decerebrate posturing)
- Hearing loss that leads to deafness
- Failure to thrive
- Feeding difficulties
- Irritability and sensitivity to loud sounds
- Severe seizures (may begin at a very early age)
- Unexplained fevers
- Vision loss that leads to blindness
Late-onset Krabbe disease:
Vision problems may appear first, followed by walking difficulties and rigid muscles. Symptoms vary from person to person. Other symptoms may occur.
Signs and tests:
An exam of the retina in the eye may show damage to the optic nerve. There may be signs or deafness and abnormal posturing in the late stages of the disorder.
Tests that may be done include:
- Reviewed last on: 5/15/2011
- Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
Vanier M. Disorders of sphingolipid metabolism. In: Fernandes J, Saudubray J-m, van den Berghe G, Walter JH, eds. Metabolic Diseases: Diagnosis and Treatment. 4th ed. New York, NY:Springer; 2006:chap 38.
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