In most cases, the signs and symptoms of Krabbe disease appear during the first few months of life. They begin gradually and progressively worsen.
Common signs and symptoms early in the course of the disease include the following:
- Feeding difficulties
- Unexplained crying
- Extreme irritability
- Fever with no sign of infection
- Declines in alertness
- Delays in typical developmental milestones
- Muscle spasms
- Loss of head control
- Frequent vomiting
As the disease progresses, signs and symptoms become more severe. They may include:
- Loss of developmental abilities
- Progressive loss of hearing and sight
- Rigid, constricted muscles
- Stiff, fixed posture
- Progressive loss of ability to swallow and breathe
Older children and adults
When Krabbe disease develops later in childhood or during adulthood, signs and symptoms can vary widely. They may include:
- Progressive loss of vision
- Difficulty walking (ataxia)
- Decline in thinking skills
- Loss of manual dexterity
- Muscles weakness
As a general rule, the younger the age that Krabbe disease occurs, the faster the disease progresses and the more likely it is to result in death.
Some people diagnosed during adolescence or adulthood may have less severe symptoms, with muscle weakness as a primary condition. They may have no impairment of their thinking skills.
When to see a doctor
The early signs and symptoms of Krabbe disease in infancy can indicate any number of diseases or developmental problems. Therefore, it's important to get a prompt and accurate diagnosis if your child is experiencing any signs or symptoms of the disease.
Signs and symptoms most often associated with older children and adults also are not specific to Krabbe disease and require a timely diagnosis.
June 03, 2014
- Miranda CO, et al. Advances and pitfalls of cell therapy in metabolic leukodystrophies. Cell Transplantation. 2013;22:189.
- Pagon RA, et al. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1238/. Accessed Feb. 28, 2014.
- Krabbe disease. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/krabbe-disease. Accessed Feb, 28. 2014.
- Ropper AH, et al. Adams & 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.
- Sakai N. Pathogenesis of leukodystrophy for Krabbe disease: Molecular mechanism and clinical treatment. Brain & Development. 2009;31:485.
- Suzuki K. Globoid cell leukodystrophy (Krabbe's disease): Update. Journal of Child Neurology. 2003;18:595.
- Krabbe disease. United Leukodystrophy Foundation. http://ulf.org/krabbe-disease. Accessed Feb. 28, 2014.
- Kohlschutter A, et al. Childhood leukodystrophies: A clinical perspective. Expert Review of Neurotherapeutics. 2011;11:1485.
- National newborn screening status report. National Newborn Screening and Genetics Resource Center. http://genes-r-us.uthscsa.edu/sites/genes-r-us/files/nbsdisorders.pdf. Accessed March 10, 2014.
- Duffner PK, et al. Early infantile Krabbe disease: Results of the World-Wide Krabbe Registry. Pediatric Neurology 2011;45:141.
- Kemper AR, et al. Weighing the evidence for newborn screening for early-infantile Krabbe disease. Genetics in Medicine: Official Journal of the American College of Medical Genetics. 2010;12:539.
- Duffner PK, et al. The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: Report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York. Genetics in Medicine. 2009;11:450.
- Renaud DL (expert opinion). Mayo Clinic, Rochester, Minn. April 1, 2014.