Krabbe disease is a rare and usually deadly disorder of the nervous system. It is an inherited genetic disease, which means that it is passed down in families. People with Krabbe disease are not able to create enough of a substance called galactosylceramidase, which is needed to make myelin. Myelin is a material your body uses to surround and protect nerve fibres. Without this protection, cells in the brain die, and the nerves in the brain and other parts of the body do not work properly.
Symptoms of Krabbe Disease
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:
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- 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
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.
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