What Are the Symptoms for Krabbe Disease?

Krabbe disease, or globoid cell leukodystrophy, is a rare, usually fatal, degenerative disorder that results from a deficiency of the enzyme galactocerebrosidase (GALC). The United Leukodystrophy Foundation says most patients suffering from Krabbe disease show symptoms in their first year of life, regress rapidly, and usually die by age 2.

Striking Quickly

• Some patients are diagnosed with Krabbe disease later in life.

  According to the United Leukodystrophy Foundation, the earlier patients are diagnosed with Krabbe disease, the more rapidly they regress. Those who are diagnosed from the ages of 2 to 14 will regress and generally die from two to seven years after their diagnosis.

Early Symptoms

• Many symptoms appear in the earliest days.

  The earliest symptoms of Krabbe disease, usually found in patients from 3 to 6 months of age, include irritability, fevers, stiff limbs, frequent seizures, difficulty feeding and frequent episodes of vomiting.

Other Symptoms

• Muscle weakness is another common symptom.

  Other symptoms of Krabbe disease, often found in older patients, include hearing loss, blindness, paralysis and muscle weakness.

Symptoms Often Misdiagnosed

• It can be difficult to diagnose Krabbe disease correctly.

  The earliest symptoms of Krabbe disease are often misdiagnosed because they are so similar to other ailments. Doctors may mistake Krabbe disease for cerebral palsy, for example.

Providing Support

• Support is critical when dealing with Krabbe disease.

  Because most Krabbe disease victims degenerate so quickly, treatment of the disease usually consists of support and making victims as comfortable as possible, according to the United Leukodystrophy Foundation.