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Diseases » Krabbé Disease » Summary
 

What is Krabbé Disease?

What is Krabbé Disease?

  • Krabbé Disease: Brain myelin disorder with various symptoms.
  • Krabbé Disease: 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 (EC 3.2.1.46). 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.
    Source - Diseases Database

Krabbé Disease is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Krabbé Disease, or a subtype of Krabbé Disease, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Krabbé Disease as a "rare disease".
Source - Orphanet

Krabbé Disease: Introduction

Types of Krabbé Disease:

Broader types of Krabbé Disease:

How many people get Krabbé Disease?

Prevalance of Krabbé Disease: rare

Who gets Krabbé Disease?

Patient Profile for Krabbé Disease: Typically infants, but can occur in teens or adulthood.

How serious is Krabbé Disease?

Prognosis of Krabbé Disease: poor. Typically fatal by age 2.
Complications of Krabbé Disease: see complications of Krabbé Disease

What causes Krabbé Disease?

Causes of Krabbé Disease: see causes of Krabbé Disease

What are the symptoms of Krabbé Disease?

Symptoms of Krabbé Disease: see symptoms of Krabbé Disease

Complications of Krabbé Disease: see complications of Krabbé Disease

Krabbé Disease: Testing

Diagnostic testing: see tests for Krabbé Disease.

Misdiagnosis: see misdiagnosis and Krabbé Disease.

How is it treated?

Treatments for Krabbé Disease: see treatments for Krabbé Disease
Research for Krabbé Disease: see research for Krabbé Disease

Organs Affected by Krabbé Disease:

Organs and body systems related to Krabbé Disease include:

Name and Aliases of Krabbé Disease

Main name of condition: Krabbé Disease

Other names or spellings for Krabbé Disease:

Globoid Cell Leukodystrophy

Galactosylceramide-beta-galactosidase deficiency, Globoid cell leucodystrophy Source - Diseases Database

Globoid cell leukoencephalopathy, Krabbe disease, Krabbe leukodystrophy, GALC deficiency, GCL, GLD, Galactocerebrosidase deficiency, Galactosylceramide beta-galactosidase deficiency, Krabbe leukodystrophy, GALC deficiency, GCL, GLD, Galactocerebrosidase deficiency, Galactosylceramide beta-galactosidase deficiency, Globoid cell leukodystrophy, Globoid cell leukoencephalopathy
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

 

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