Disease Information for Leukodystrophy, Krabbe: Definition

Ads
  • A degenerative disease of the central and peripheral nervous system caused by abnormal breakdown and turnover of myelin and marked by reduced galacosylceramide beta-galactosidase activity; Two types based on the age of onset are recognized: Infantile-onset Krabbe disease is marked by the appearance of symptoms at ages 3-6 months, which include irritability, frequent crying, and increase of muscle tonus; They are followed by opisthotonos, less of tendon reflexes, visual failure, elevated cerebrospinal fluid proteins, and delayed nerve conduction velocity; Most infants die during the second year of life; Late-onset Krabbe disease (LOKD) has first symptoms at ages 5 to 10 years, consisting of focal neurological signs, hemiparesis, cerebellar ataxia, cortical blindness, and spastic paraplegia, followed by mental and physical deterioration; Some patients survive into adulthood -[Jablonski/NIH Archives 2007]-----------

    (Edit)

Ads