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Doctor insights on: Krabbes Leukodystrophy

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What condition is also known as krabbe leukodystrophy?

What condition is also known as krabbe leukodystrophy?

Globoid cell: This is one of the leukodystrophies, a genetic disease, of the nervous system. Myelin, the covering around nerves, is destroyed causing brain damage. There is a deficiency of the enzyme, galactocerebrosidase. This disease mostly affects infants but can occur at any age. Unfortunately there is no cure. ...Read more

Dr. Michel Philippart
18 doctors shared insights

Leukodystrophy (Definition)

Leukodystrophy is a condition in which a person has progressive degeneration of the white part of the brain over time. The white part of the brain is white due to the fatty insulation ...Read more


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What is leukodystrophy?

What is leukodystrophy?

Childhood: This is a class of hereditary disorders affecting the white matter of the brain mainly presenting in childhood. The diseases may vary in extent and pace, but often affect walking, cognition, and may be associated with epilepsy. More information may be found on mayo clinic site or www.Aan.Com. ...Read more

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What is metachromatic leukodystrophy?

What is metachromatic leukodystrophy?

MLD: Is a lysosomal storage disease affecting myelin growth, the insulator of nerve fibers, affecting lipid metabolism. It leads to progressive dementia in adults. ...Read more

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What are the tests for leukodystrophy?

What are the tests for leukodystrophy?

Leukodystrophy tests: Neurodevelopmental tests demonstrate the following findings in patients with infantile or early juvenile metachromatic leukodystrophy: •loss of previously achieved developmental milestones •tremors •truncal ataxia •hyperreflexia progressing to hyporeflexia •hypotoniagait abnormalities •optic atrophy neurocognitive tests demonstrate other abnormalities. ...Read more

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What exactly is aldrino leukodystrophy?

What exactly is aldrino leukodystrophy?

Genetic disorder: Adrenoleukodystrophy is genetic disorder that mainly affects males and results in the accumulation of very-long chain fatty acids in tissues throughout the body, mainly the central nervous system and the adrenal cortex, causing progressive neurodegenrative changes and adrenal insufficiency respectively. Prognosis not good unfortunately. ...Read more

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What are the symptoms of leukodystrophy?

What are the symptoms of leukodystrophy?

Leukodystrophy signs: gait disturbances •memory deficits •seizures (may be present) •loss of motor developmental milestones •decreased attention span •speech disturbances •decline in school performance the early juvenile form includes the following: •gait disturbances •tremors •clumsiness •loss of previously achieved skills •intellectual decline •behavioral changes •seizures (possible) the late juvenile and adult for. ...Read more

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Is leukodystrophy a sex-linked condition?

Is leukodystrophy a sex-linked condition?

Sometimes: Some of the leukodystrophies, such as adrenoleukodystrophy, are sex-linked, but many others are not. Please see this web page for more information and links: http://www.Ninds.Nih.Gov/disorders/leukodystrophy/leukodystrophy.Htm. ...Read more

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Can you give some info on leukodystrophy?

Can you give some info on  leukodystrophy?

LEUKODYSTROPHY: It is a group of disorders characterised by dysfunction of white matter of the brain.It is caused by imperfect growth of the myelin sheath, fatty covering that acts like an insulator around the nerve fiber.Each of the these are due to the defect in the gene that controls the production or metabolism of only one of the component molecule of myelin.These are inherited disorders, but may start spontane. ...Read more

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What is metachromatic-leukodystrophy? What causes it?

A genetic disorder: Metachromatic leukodystrophy is an inherited disorder characterized by the accumulation of fats called sulfatides in cells. This accumulation especially affects cells in the nervous system that produce myelin, the substance that insulates and protects nerves This is a link to the genetic website with more information http://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy ...Read more