What is Krabbe disease?
Krabbe disease is an inherited disorder that destroys the protective coating (myelin) of nerve cells in the brain and throughout the nervous system.
In most cases, signs, and symptoms of Krabbe disease develop in babies before 6 months of age, and the disease usually results in death by age 2. When it develops in older children and adults, the course of the disease can vary greatly.
There's no cure for Krabbe disease, and treatment focuses on supportive care.
However, stem cell transplants have shown some success in infants who are treated before the onset of symptoms and in some older children and adults.
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
Source:
https://www.mayoclinic.org/diseases-conditions/krabbe-disease/symptoms-
causes/syc-20374178
