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Doctor insights on: Ataxia Telangiectasia Diagnosis

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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

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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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

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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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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 sort of disorder is friedreich ataxia?

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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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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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 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 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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What type of exam can diagnose Paraneoplastic Neurological Syndromes?

What type of exam can diagnose Paraneoplastic Neurological Syndromes?

Depends on type: There r many paraneoplastic neurologic syndromes, each associated with specific types of cancers. Thus, there's no generic answer to ur question. Paraneoplastic lymphomas, 4 instance, can produce specific antibodies which can b detected by blood tests or lumbar puncture, depending. The best "test"? A thorough history & physical by some1 knowledgeable (oncologist, neurologist) who can guide u more ...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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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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Any treatment for heriditary spastic paraparesis? Accompanied by sensory neuropathy?

Any treatment for heriditary spastic  paraparesis? Accompanied by sensory neuropathy?

Symptomatic treatmen: Hsp is a group of inherited disorders, often insidiously progressive and severe. There are no effective treatments to the underlying damage to the nerve axons so treatment is symptomatic. Baclofen, dantrolene and tinazidine may help with spasticity; oxybutinin with urinary urgency; gabapentin, Pregabalin and duloxetine for neuropathy. Vitamins, d, e and b6 may also help. Physical therapy also. ...Read more

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What is the cure of ataxia telangiectasia?

Unfortunately none: Unfortunately there is no cure for ataxia telangiectasia. The only treatment is physical and occupational therapy to help maintain function that remain as the disease progresses. ...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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How does freidreich's ataxia differ from fragile x syndrome and myotonic distrophy?

How does freidreich's ataxia differ from fragile x syndrome and myotonic distrophy?

Triplet repeats....: All three are caused by a form of genetic instability involving dna triplet repeats, however they affect three different genes and cause three different diseases: freidrich's = degenerative neuro-muscular disorder; fragilex = mental retardation and behavioral disorder; and myotonic = progressive muscle wasting and weakness. ...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

Dr. John Landi
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