Krabbe Disease : Learning Center on Healthline.com

Krabbe Disease Learning Center

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Autosomal recessive hereditary disorder

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Krabbe Disease

Krabbe disease is a rare genetic disorder of the nervous system. It is a type of leukodystrophy.Globoid cell leukodystrophy; Galactosylcerebrosidase deficiency; Galactosylceramidase deficiency.A defect in the GALC gene ...

Basic Info

Symptoms

Early-onset Krabbe disease:Changing muscle tone from floppy to rigid (decerebrate posturing)Hearing loss that leads t...

Causes

A defect in the GALC gene causes Krabbe disease. Persons with this gene defect do not make enough of a substance call...

Tests

An exam of the retina in the eye may show damage to the optic nerve. There may be signs or deafness and abnormal pos...

Treatments

There is no specific treatment for Krabbe disease. Some people have had a bone marrow transplant in the early stages ...

Available Treatments

Drugs

No Known Drug Therapy

Risk Factors

SCANDINAVIAN

Complications

This disease damages the central nervous system. It can cause:BlindnessDeafnessSevere problems with muscle toneThe d...

Prevention

Genetic counseling is recommended for persons with a family history of Krabbe disease who are considering having chil...

Doctor Specialties

Call your health care provider if your child develops symptoms of this disorder. Seizures, loss of consciousness, or...

Basic Info

Multimedia

Images

Krabbe disease, on chromosome 14. ...

Articles

Krabbe disease

Krabbe Disease

Krabbe disease

Tools

Balance Disorders Quiz

HealthMaps

Krabbe Disease

Leukodystrophy

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