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Doctor insights on: Adrenoleukodystrophy Leukodystrophies

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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


Dr. Alan Ali Dr. Ali
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What is metachromatic leukodystrophy?

Dr. Alan Ali Dr. Ali
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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 mutation type causes duchenne muscular dystrophy?

What mutation type causes duchenne muscular dystrophy?

Duchenne MD: Duchenne muscular dystrophy is caused by a defective gene for dystrophin (a protein in the muscles). It is inherited in an X-linked recessive fashion, but it often occurs in people from families without a known family history of the condition. Children with the condition should be followed with a multi-specialist team approach ...Read more

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What mutation type causes duchenne muscular dystrophy?

What mutation type causes duchenne muscular dystrophy?

DMD is caused by: mutation of Xp21.2-p21.1, a large gene that encodes dystrophin, a muscle protein. Deletions in specific areas of the gene are associated with cognitive impairment, verbal memory, auditory comprehension, increased risk of ADHD & Autistic Spectrum Disorder. Each son of a carrier mom has a 50% chance of having DMD. Carrier girls can have muscle weakness, including heart. See mda.org & a geneticist. ...Read more

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Are muscular dystrophy diseases inherited?

Are muscular dystrophy diseases inherited?

Yes, virtually all: Heredity varies from autosomal dominant to recessive and a few sex linked, but these are indeed genetically mediated muscle disorders. ...Read more

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Genetic disorder hht?

Genetic disorder hht?

HHT is genetic: Hht also known as hereditary hemorrhagic telangiectasia is a genetic condition that causes differences in how blood vessels are formed causing so-called arteriovenous malformations (avms) which on skin are called teleangiectasias, thus name of condition. Currently three genes are known to cause it. Nih site has good info: http://ghr.Nlm.Nih.Gov/condition/hereditary-hemorrhagic-telangiectasia. ...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

Dr. Jay Park Dr. Park
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How come duchenne muscular dystrophy considered a genetic disorder?

Dr. Jay Park Dr. Park
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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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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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Is alzheimer's disease inherited?

Likely yes: If there is a strong history of alzheimer's disease in the family like grandparents, parents, uncles, aunts, brothers or sisters, then you could be at risk of developing it. ...Read more

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Whats congenital generalized lipodystrophy?

Whats congenital generalized lipodystrophy?

Fat distribution: This is very rare and both parents are typically carriers. The tissue under the skin has almost no fat under it. Instead, fat accumulates inside muscles, liver, heart. Triglycerides get very high and patients are resistant to insulin. Kids may develop early pubic hair and get diabetes. There are many more details. This condition is very serious. ...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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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 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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What type of genetic disorder is the duchenne muscular dystrophy?

"X-Linked recessive": This means that the problem causing this disease is carried on the x chromosome. Women have 2 of these, men just one. If a boy has an x chromosome that has this genetic defect, there is no other dna to "cover" this up and that boy will have the disease. Women have 2 copies of dna, and only can be carriers. Mothers can then pass this problem on to their sons, however. ...Read more

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Whats stargardts macular dystrophy?

Whats stargardts macular dystrophy?

Inherited disease: Stargardts macular dystrophy is usually a bilateral form of macular degeneration which leads to severe central vision loss by the 5th decade of life. The peripheral vision usually remains intact. While it is inherited from both parents, the risks of passing it on to the next generation are quite slim. There is a clinical trial testing the efficacy of stems cells on reversing damage in smd. ...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 are von hippel - lindau disease and lennox/gastaut syndrome.?

What are von hippel - lindau disease and lennox/gastaut syndrome.?

Syndromes: Von Hippel-Lindau syndrome is a genetic disorder that leads to the developement of many different types of tumors. Lennox Gastaut syndrome is a disorder in which the victim has many seizures. Both are severe, and a person with either one should have a doctor familiar with its treatment ...Read more

Dr. Jay Park Dr. Park
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How is osteogenesis imperfecta inheritanced?

Dr. Jay Park Dr. Park
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How is osteogenesis imperfecta inheritanced?

Autosomal dominant: Osteogenesis impecta (OI) is transmitted in autosomal dominant fashion. Rare cases of OI, type II B &and type II C, are transmitted in autosomal recessive inheritance. ...Read more

Dr. Harry Chugani
45 doctors shared insights

Adrenoleukodystrophy (Definition)

Adrenoleukodystrophy - genetic disorder in which myelin sheaths (insulation for neurons) in brain ...Read more