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Doctor insights on: Who Discovered Leukodystrophy

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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

Dr. Michel Philippart
18 Doctors shared insights

Leukodystrophy (Definition)

Leukodystrophy is a metabolic disorder that affects the brain and nervous system. Myelin which is the insulation around nerve cells is defective in leukodystrophy. It is a progressive disorder meaning that it gets worse ...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
hypotonia
gait 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

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What happens at the end of metachromatic leukodystrophy?

What happens at the end of metachromatic leukodystrophy?

Loss of function: This is a very rare disease, inherited when both parents are usually carriers. Because of the deficient enzyme, arylsulfatase a, patients suffer from a gradual destruction of myelin sheath, the protective covering of nerves. At the end, loss of muscle function, seizures, possibly coma, and mental illness (in older people) prevail. Unfortunately, no cure, though therapies may improve life quality. ...Read more

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What is the definition or description of: Leukodystrophy?

What is the definition or description of: Leukodystrophy?

Leukodystrophy: Leukodystrophy is a metabolic disorder that affects the brain and nervous system. Myelin which is the insulation around nerve cells is defective in leukodystrophy. It is a progressive disorder meaning that it gets worse as a patient ages. ...Read more

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Can you tell me anything about the disability leukodystrophy?

Can you tell me anything about the disability 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 from degeneration of white matter of brain. Also in young ones it causes muscle rigidity & hyper irritability & hyper sensitivity to environment, with loss of hearing & vision. ...Read more

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What occurs at the end stages of metachromatic leukodystrophy?

What occurs at the end stages of metachromatic leukodystrophy?

Palliative care: You have my sympathy. My hope is that when the end time comes, the patient will be allowed to go with comfort and dignity. Https://behindthezine. Wordpress. Com/tag/metachromatic-leukodystrophy/. ...Read more

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What happens in the end stages of metachromatic leukodystrophy?

What happens in the end stages of metachromatic leukodystrophy?

Leukodystroph course: Mld is a severe disease that gets worse over time. Eventually people lose all muscle and mental function. Life span varies depending on what age the condition started, but the disease course usually runs 3 - 20 or more years. See: http://www. Ncbi. Nlm. Nih. Gov/pubmedhealth/pmh0002185/. ...Read more

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What are the tests for leukodystrophies?

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
hypotonia
gait abnormalities
•optic atrophy
neurocognitive tests demonstrate other abnormalities. ...Read more

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What can you tell me about leukodystrophies?

What can you tell me about leukodystrophies?

Leukodystrophy: Metachromatic leukodystrophy (mld) is a genetic disorder that affects nerves, muscles, other organs, and behavior. It slowly gets worse over time.
Mld is usually caused by the lack of an important enzyme called arylsulfatase a. Because this enzyme is missing, chemicals called sulfatides build up in and damage the nervous system, kidneys, gallbladder, and other organs. Http://www. Ncbi. Nlm. Nih. Gov/p. ...Read more

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How is life for patients who has leukodystrophy?

Leukodystroph course: Mld is a severe disease that gets worse over time. Eventually people lose all muscle and mental function. Life span varies depending on what age the condition started, but the disease course usually runs 3 - 20 or more years. See: http://www. Ncbi. Nlm. Nih. Gov/pubmedhealth/pmh0002185/. ...Read more

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Are there any homeopathic cures for leukodystrophy?

Doubt it: I do not know of any effective homeopathic treatments for any illness, let alone one as serious as leukodystrophy. ...Read more

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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

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Can you tell me about the disease called leukodystrophy?

Can you tell me about the disease called leukodystrophy?

Lose white matter: There are a group of diseases, mostly genetic, in which the white matter of the brain is selectively damaged. Sometimes the white matter nearest to the outer gray matter is relatively spared, making the motor and sensory problems worse than the cognitive deficits. ...Read more