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.

Jun. 11, 2011