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Doctor insights on: Ataxia Telangiectasia Syndrome

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Questions on ataxia telangiectasia causes?

Questions on ataxia telangiectasia causes?

Genetic: Ataxia telangiectasia is caused by a genetic mutation. It is transmitted in an autosomal recessive fashion. This means that for a child to get the disorder, they need to get one damaged chromosome from both parents. Because the parents only had one damaged chromosome, they are not affected; however, the child with two damaged chromosomes, will show signs of the disease. ...Read more

Dr. Linda Callaghan
193 doctors shared insights

Ataxia (Definition)

Ataxia means movements without coordination. People with ataxia have incoordination because the parts of the nervous system that control movement and balance are not working properly. Ataxia can be associated with infections, injuries, or degenerative changes in the central nervous system. Ataxias may be hereditary ...Read more


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What treats ataxia telangiectasia!?

What treats ataxia telangiectasia!?

Symptomatic: Ataxia telangiectasia is a genetic condition with no cure. As such, therapy is directed at treating consequences of this disease. For example, it is best to avoid excess radiation (excess x-rays, ct scans) be wary of any signs of infection (due to immune compromise) and be vigilant about signs of malignancy (weight loss, night sweats, etc.). Physical therapy is also recommended for ataxia. ...Read more

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What are frey syndrome, horner's syndrome and shy-drager syndrome?

What are frey syndrome, horner's syndrome and shy-drager syndrome?

What do they have in: They all have abnormalities of autonomics and other nervous sytem problems. ...Read more

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What causes guillain-barre syndrome (gbs)?

What causes guillain-barre syndrome (gbs)?

No one knows: Gbs occurs when the bodies immune system attacks the lining or myelin of the nerve cells in the peripheral nervous system. Although it can be associated with things like following surgery or after certain infections, for example it has been seen following campylobacter infection which causes diarrhea, the true cause is unknown. ...Read more

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What is hemorrhagic telangiectasia also known as oslo weber rendu syndrome?

What is hemorrhagic telangiectasia also known as oslo weber rendu syndrome?

Same: Oslo rendu weber involves vascular malformations on mucosal surfaces and is a congenital genetic disease. These vascular abnormalities frequently bleed. ...Read more

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What causes angelman syndrome?

What causes angelman syndrome?

Because..: Most likely due to physical features and some developmental issues.These kids often have some delays.It is a genetic condition due to a defect in the child's chromosomes. ...Read more

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Is hemorrhagic telangiectasia (hht) a genetic disease?

Yes: Hht is an autosomal dominant genetic disease with most cases arising in half of the children of an affected person. ...Read more

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Is sturge weber syndrome is progressive disease?

Is sturge weber syndrome is progressive disease?

Not progressive: But will always need follow up eye exams to monitor for possible glaucoma. ...Read more

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Is prader willi syndrome hereditary?

Is prader willi syndrome hereditary?

Not typically: Prader willi is most commonly a random genetic abnormality that occurs early in development of fetus. There is usually no history of the disease in the family. ...Read more

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Is paraneoplastic syndrome genetic?

No: There is no genetic relationship to the development of a paraneoplastic syndrome. ...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

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What is wernicke korsakoff syndrome?

Brain damage: Wernicke's encephalopathy and korsakoff syndrome are different conditions that are both due to brain damage caused by a lack of vitamin b1 (thiamine). A lack of vitamin b1 is common in people with alcoholism. It is also common in persons whose bodies do not absorb food properly (malabsorption), such as sometimes occurs after obesity surgery. ...Read more

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Is nephrotic syndrome hereditary?

Is nephrotic syndrome hereditary?

See below: Some causes of nephrotic syndrome are due to herediary causes, eg one of the causes of fsgs also called focal and segmentalglomerulosclerosis. ...Read more

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Is angelman syndrome dominant or recessive?

Is angelman syndrome dominant or recessive?

Neither: Angelman's syndrome doesn't follow simple mendelian genetics. Rather, it's due to de novo single genetic mutations, translocational errors, chromosomal abnormalities, or more commonly epi-genetic mutations such as changes in dna methylation. ...Read more

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What's guillian barre syndrome (gbs) syndrome?

What's guillian barre syndrome (gbs) syndrome?

Auto-immune reaction: A triggered auto-immune reaction usually against the myelin of peripheral nerves. In a subset of individuals, the response is also directed at the nerve cells. This causes slowing of nerve conduction and motor weakness classically in an ascending pattern from the legs proximally. The attack may be so dramatic as to cause breathing difficulty requiring a respirator. Treatment options exist. ...Read more

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What is klippel trenaunay syndrome?

What is klippel trenaunay syndrome?

Let me explain: Klippel–trénaunay syndrome and sometimes angioosteohypertrophy syndrome and hemangiectatic hypertrophy, is a rare congenital medical condition in which blood vessels and/or lymph vessels fail to form properly. The three main features are nevus flammeus (port-wine stain), venous and lymphatic malformations, and soft-tissue hypertrophy of the affected limb. ...Read more

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Which person discovered crouzonodermoskeletal syndrome (crouzon syndrome)?

Which person discovered crouzonodermoskeletal syndrome (crouzon syndrome)?

Crouzon: Crouzon craniofacial dysostosis was described by crouzon in 1912. The genetic cause was not identified until 1994 and the credit goes to a number of different geneticists - reardon and preston independently helped narrow the genetic inheritance to the fgfr2 gene. ...Read more

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What is antiphospolipid syndrome (hughes syndrome)?

What is antiphospolipid syndrome (hughes syndrome)?

Antiphospholipids: An autoimune disorder characterized by antibodies to certain phopholipids that predisposes to clotting problmes and pregnancy complications. A certain percentage will develop into systemic lupus. ...Read more

Dr. Eric Weisman
56 doctors shared insights

Loss Of Coordination (Definition)

Loss of coordination is a symptom in which some parts of a person's body should but do not work together in a coordinated way. One example is when several muscles move in an uncoordinated manner, ...Read more


Dr. Iyore Otabor
37 doctors shared insights

Ataxia Telangiectasia (Definition)

Ataxia telangiectasia is a rare inherited medical condition that presents in childhood with problems walking, sensitivity to sunlight, and spider like collection of dilated blood vessels close ...Read more