Symptoms

In most cases, the signs and symptoms of Krabbe disease appear during the first 2 to 5 months of life. They begin gradually and progressively worsen.

Infants

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:

• Seizures
• 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
• Muscle 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 having 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.