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Doctor insights on: Krabbes Leukodystrophy

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Are leukodystrophies like metachromatic leukodystrophy (mld) treatable?

Are leukodystrophies like metachromatic leukodystrophy (mld) treatable?

Leukodystrophy: There is no cure for mld. Bone marrow transplantation may delay progression of the disease in some cases. Other treatment is symptomatic and supportive. Considerable progress has been made with regard to gene therapy in an animal model of mld. (http://www.Ninds.Nih.Gov/disorders/metachromatic_leukodystrophy/metachromatic_leukodystrophy.Htm). ...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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Is parasupranuclear palsy genetic?

Is parasupranuclear palsy genetic?

Not usually: If you are referring to progressive supranuclear palsy, this is not felt to be genetic. This typically occurs more frequently in males in their 60's. ...Read more

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What kind of gene mutation is canavan disease?

What kind of gene mutation is canavan disease?

Recessive defect: Canavan disease occurs when a baby inherits a mutated gene from both parents, that when normal codes for the production of an enzyme called aspartoacyclase.Having only one mutated gene allows production of the enzyme so carriers (the parents) have no problems. ...Read more

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Is lou gehrig's disease dominant or recessive?

Is lou gehrig's disease dominant or recessive?

Neither: 90-90% of case of ALS are not inherited, it occurs at random at its cause is not known. In 5-10% of cases there is a familial form of the disease. In these 5-10% of cases it is usually dominant (meaning it is only necessary to have one copy of the defective gene) remember however most of the time it is not inherited at all. ...Read more

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What is krabb disorder?

What is krabb disorder?

Krabbe disease: Is a rare genetic disorder of the nervous system due to mutation in chromosome no. 14, where there is loos of myelin sheath of nerves leading to stiffness, seizures, loss of muscle strength. It usually starts at 2-6 month age. If early, treatment is bone marrow transplant and physical therapy to strengthen muscles. ...Read more

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Why is ALS called lou gehrig's disease?

Why is ALS called lou gehrig's disease?

Interesting history: When lou gehrig died, no autopsy was ever done, and it was thought that he did suffer als, but retrospective analysis raises question of what we now know to be a chronic traumatic encephalopathy. Regardless, his name is associated with degeneration of motor nerve cells in brain and spinal cord. ...Read more

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Ayurvedic treatment for von hippel lindau disease?

Ayurvedic treatment for von hippel lindau disease?

Questionable: Others might disagree, and certainly ayurvedic treatment can be used along with other things if it makes you feel better, but I would concentrate on traditional treatments and diagnoses for this very serious syndrome ...Read more

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How come duchenne muscular dystrophy considered a genetic disorder?

How come duchenne muscular dystrophy considered a genetic disorder?

Mutated gene in X : Duchenne muscular dystrophy is caused by an abnormal gene in x chromosome, and is inherited as an x-linked recessive trait. ...Read more

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Is lou gehrigs disease sex linked?

No: Most of it is sporadic. I do not know any variants of lou gehrig's that travel on the x-chromosome. This is in contrast with duchenne's / becker's muscular dystrophy, a weakness syndrome on the x chromosome that might be mistaken for lou gehrig's by a very inept physician. Lou gehrig's is amyotrophic lateral sclerosis. It is also unrelated to sexual activity. ...Read more

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Does being diagnosed with Myotonia through genetic testing of the Scn4a gene mean a person has Myotonic Muscular Dystrophy? Is Myotonia a Dystrophy?

Does being diagnosed with Myotonia through genetic testing of the Scn4a gene mean a person has Myotonic Muscular Dystrophy? Is Myotonia a Dystrophy?

Usually.: Myotonia, can have more than one cause. Myotonic dystrophy, is a genetics, and heritage form of Maya Tonio. If you have the gene, you most likely have it. Myotonia is due to an abnormality in the membranes of muscle cells, making them hyperexcitable. ...Read more

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Can a pedigree trace autosomal recessive or autosomal dominant diseases?

Family tree: If you have enough information, a well filled out family tree can sometimes reveal patterns of inheritance. This includes autosomal recessive /dominant or x linked forms of inheritance. ...Read more

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What type of genetic disorder is Alzheimer's disease?

What type of genetic disorder is Alzheimer's disease?

Not always genetic: Most cases of alzheimer's (85-90%) are not genetic, although the risk is increased if there is a family history. It is only genetic in 10-15% of the cases, in which case it is autosomal dominant; if a parent is affected, there is a 50% chance that a child will be normal and 50% chance that the child will carry the mutation and have the disease. These include mutations in app, ps-1, and ps-2. ...Read more

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How come wilson's disease (hepatolenticular degeneration) considered a genetic disorder?

How come wilson's disease (hepatolenticular degeneration) considered a genetic disorder?

Because it is: No disrespect is intended. Two defective copies of the gene atp7b, one from each carrier parent, renders the person incapable of unloading copper from cells that need to lose it. ...Read more

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What is the genetic inheritance of duchenne muscular dystrophy?

X linked: The gene for the abnormal protein is located on the x chromosome. Hence it is "x linked" . Mostly boys are affected. ...Read more

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What type of genetic disorders are tay sachs disease and canavans examples of?

Genetic diseases: Tay sachs is an autosomal recessive genetic disease. It is a disease of the nervous system and is a member of the sphingolipidoses. Canavan disease is different autosomal recessive genetic disease of the nervous system and is a member of the leukodystrophies. Eastern european (ashkenazi) jews have a higher carrier rate for both of these diseases than the average population.Seek genetic counsiling. ...Read more

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How is alzheimer's inherited?

Depends: Early onset illness is inherited at a high rate but the more common late onset alzheimers has a number of genes taht increase risk a small amount each. ...Read more

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Is alzheimer's disease genetic?

Is alzheimer's disease genetic?

It depends: In rare families, there is an abnormal gene that is transmitted to children and there is 50% probability that the children will eventually develop alzheimer's disease. However, it is usually in families where several members develop alzheimer's disease in early age. Otherwise, there is inheritance of the form of apolipoprotein that increases the risk of developing alzheimer's disease earlier. ...Read more

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