Krabbes Disease (Biology Project)

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Last updated 7 years ago

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Krabbes Disease (Biology Project)

"Krabbe disease is caused by a genetic defect that results in a deficiency in an enzyme called galactocerebrosidase (GALC). This enzyme is essential for the maintenance of myelin — a fatty substance that insulates your nerve fibers" (Mayo Clinic Staff 1).

Sympotoms of KrabbesFeeding difficultiesUnexplained cryingLoss of head controlFeversVomitingExtreme irritabilityChanges in muscle tone (limb and muscle stiffness, poor coordination of movements)SeizuresProgressive loss of hearing and sightSpasticity (presence of spasms or consistently contracted muscles)Loss of developmental milestones(Mayo Clinic Staff 1)

Krabbes Disease

Krabbes disease is a fatal inherited disease effecting the central nervous system. It effects muscle movement and may cause vision and hearing loss. Usually it occurs in six month newborns but can show up in children or adults.

There's no specific, proven treatment for Krabbe disease, nor is there a cure. Krabbe disease treatment is designed primarily to ease symptoms and may include:Anticonvulsant medications to manage seizuresDrugs to ease muscle spasticity and irritability, such as benzodiazepinesDrugs that may reduce the incidence of reflux

Elise Wilson3rd period



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