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Doctor insights on: Ataxia Telangiectasia Emedicine

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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. Clarence Grim
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 is friedreich ataxia?

What is friedreich ataxia?

Friedrich's ataxia: FA is a condition that causes weakness, scoliosis, ataxia, visual impairment, heart disease and diabetes mellitus. It is an inherited condition that normally affects people as a child or as a young adult. http://www.curefa.org/whatis.html ...Read more

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Is hemorrhagic telangiectasia (hht) a genetic disease?

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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What is friedrichs ataxia?

What is friedrichs ataxia?

Hereditary ataxia: An autosomal dominant disorder causing mitochondrial dysfunction and worsening due to oxidative stress. Spinal disorder usually presenting at a young age, with ataxia, dysarthria, leg weakness, numbness, pes cavus, scoliosis, and cardiomyopathy. Genetic testing for frataxin is confirmatory. There is a variation of ataxia with vitamin E deficiency which is similar, but responds to vit e. ...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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Hereditary hemorrhagic telangiectasia (hht). It is a genetic disease?

Yes: Hht is a genetic condition that is transmitted in an autosomal dominant fashion (i.e. If a patient has hht, they have an affected parent). Occasionally, a new mutation may cause hht to develop. ...Read more

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What sort of disorder is friedreich ataxia?

Friedrich's ataxia: FA is an inherited disorder that affects strength and coordination, among other things, and often interferes with walking. http://www.curefa.org/whatis.html ...Read more

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Is spino-cerebellar ataxia contagious?

No: Spinocerebellar degenerations are genetic disorders that run in families. There is no infectious component. ...Read more

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What is hereditary hemorrhagic telangiectasia?

What is hereditary hemorrhagic telangiectasia?

History & Physical: Hht, or osler-weber-rendu syndrome, can be detected on physical examination with telangiectasia (red, lacy like, dilated blood vessels that blanch with pressure) over a patients oral mucosa (lips, cheeks, tongue) etc and on their skin. Patients may also have a history of recurrent nosebleeds and maybe even GI bleeding. ...Read more

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What causes von hippel lindau?

What causes von hippel lindau?

Genetic: Von hippel–lindau disease is a genetic condition caused by a mutation of the “von hippel-lindau tumor suppressor” gene on chromosome 3 .It is autosomal dominant. ...Read more

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How are cerebellar degeneration, cerebellar ataxia and paraneoplastic cerebellar related?

How are cerebellar degeneration, cerebellar ataxia and paraneoplastic cerebellar related?

Ataxia: Cerebellar degneration means that the part of the brain that controlls coordination and balance is losing cells and likely getting smaller. Ataxia is the clumsiness, imbalance, slurred speech and/or abnormal eye movements that can accompany cerebellar degeneration. A paraneoplastic cerebellar syndrome is when the body's immune response to cancer somewhere else damages the cerebellum "by mistake". ...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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What's spinocerebellar ataxia?

What's spinocerebellar ataxia?

Archaic term and : Not used in academic settings due to confused terminology. Was used to describe both hereditary and sporadic neurodegenerative ataxias, but now classify these based on genetic and molecular markers. Amongst these, friedreich's ataxia, ataxia telangiectasia, sca 1-7, mitochondrial. Ataxia is incoordination of movement due to cerebellar dysfunction. ...Read more

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Is juxtaforeal telangiectasia an autoimmune disease?

Is juxtaforeal telangiectasia an autoimmune disease?

Unknown: Juxtafoveal telangiectasia is termed "ideopathic" meaning the cause is yet unknown; whether there is an autoimmune component is not known/. ...Read more

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What diseases are similar to spinocerebellar ataxia?

Generic comments: Spinocerebellar ataxias are hereditary conditions, which may have features of Multiple Sclerosis, Parkinson's disease, and even blend into pernicious anemia signs. . Other disorders can indeed be confused with SCA's. However, most neurologists can skillfully sort out characteristics, and provide definitive conclusive testing to arrive at correct diagnosis. ...Read more

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What sort of problem is ataxia telangiectasia?

Ataxia: Ataxia telangiectasia is a condition in which abnormal vessel growth occurs in various parts of the body, especially in the motor control portion of the brain base (causing ataxia) and other parts of the body including the retina, kidney and other internal organs. It needs careful following by your physician with neurologic input at times. ...Read more

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How is cerebellar ataxia treated?

Supportively: The commonest acquired causes are alcoholism and viral infections. But many cases are due to genetically determined neurodegeneration. If you drink, stop--you might get better. Gait training and ambulatory aides may help. ...Read more

Dr. Austina Cho
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