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Doctor insights on: Ataxia Telangiectasia Prognosis

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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. Donald Alves
195 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 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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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 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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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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How is cerebellar ataxia treated?

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

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Does cerebellar ataxia spread?

It can be: Cerebellar ataxia is a description of examination. Causes can be congenital, degenerative, caused by chronic damage from alcohol or dilantin, or associated with structural defects of the cerebellum. It can also be an indication of cerebellar tumor. Many patients following head injury recover with poor coordination and ataxia due to damage to the deep structures of the brain. ...Read more

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Can preimplantation genetic diagnosis testing work on diagnosising ataxia telangiectasia?

Can preimplantation genetic diagnosis testing work on diagnosising ataxia telangiectasia?

Perhaps: It is a genetic disorder with the parents acting as carriers. Atcp.Org might be a good starting place to investigate genetic counseling prior to conception and try to evaluate your risk. ...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 is primitive cerebellar ataxia ?

What is primitive cerebellar ataxia ?

Loss of balance: And muscular control. Speech may be slurred and the patient behaves as though she were drunk with alcohol. A rare cause is vitamin b1 dependency. This is the same as deficiency but the patient needs huge doses of the vitamin. There are published cases of this. It can even be intermittent and inititiated by head injury, or a simple infection. ...Read more

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Dad(52yrs)diagnosed w/cerebral vermian atrophy. Symptoms:uncoordinated movements, speech, swallowing difficulty(at times). Non-drinker. Is there a cure

Dad(52yrs)diagnosed w/cerebral vermian atrophy. Symptoms:uncoordinated movements, speech, swallowing difficulty(at times). Non-drinker. Is there a cure

Search for cause: The term "cerebral atrophy" is generic and does not explain why your dad is impaired. You truly need to have a full neurological evaluation, as the symptoms do raise concerns regarding many potential problems. Some of these issues could be associated with vitamin deficiencies, some from an inflammatory condition. Even might be due to a prion infection. Need to vigorously pursue. ...Read more

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What are ataxia, cerebellar or spinocerebellar degeneration?

What are ataxia,  cerebellar or spinocerebellar degeneration?

Progressive disorder: Genetic and familial conditions can lead to a progressive degeneration of the cerebellum and brainstem structures. There are many different types. Multiple sclerosis can also cause progressive balance problems that can mimic degenerative disease. Tumors can also mimic degenerative disease. A quality MRI and good neurological evaluation is necessary. ...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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Polymyositis life expectancy with sjogren's syndrome? What is prognosis?

Polymyositis life expectancy with sjogren's syndrome? What is prognosis?

Depends: On the course of the disease, organ involvement, baseline health status, the aggressiveness of the condition, and many other factors (response to treatment, etc.). ...Read more

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Is cerebellar atrophy fatal?

No: Cerebellar atrophy can be associated with long term Phenytoin use and alcohol consumption. It by itself is not a fatal condition ...Read more

Prognosis (Definition)

The prognosis is the predicted outcome or "forecast" for a disease or process. It is only an estimate but is likely based on past experience or data taking into account the individual's overall health status. It may suggest progression of disease ...Read more


Dr. Heidi Fowler
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