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Doctor insights on: Ataxic Telangiectasia

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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

Dr. Gregory Moneta
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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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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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'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 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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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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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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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?

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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Explain the condition called sudden loss of coordination (cerebellar ataxia).?

Cerebellar Ataxia: Acute cerebellar ataxia is defined as the sudden loss of coordination or abnormal gait due to abnormal function of the cerebellum. Causes are vast, and include tumors, infectious diseases, and genetic (inherited) etiologies. This is best managed by a neurologist (specialist in the nervous system). ...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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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. Alan Ali Dr. Ali
7 doctors agreed:
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Is vascular dementia hereditary?

Dr. Alan Ali Dr. Ali
7 doctors agreed:
Is vascular dementia hereditary?

Vascular Dementia: Major risk factors are advancing age, with cardiovascular problems, cholesterol, sugar problems, smoking & alcohol. ...Read more

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Who once discovered spinocerebellar ataxia?

Who once discovered spinocerebellar ataxia?

17 people at least: Since there are probably at least 17 varieties of spinocerebellar ataxia (of which friedreich's is the most famous) 17 discoverers (or more) probably exist. Why does this matter? ...Read more

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MRI brain results Impression- there is cerebral atrophy with subcortical WMC, consistent wit microangiopathic disease, demyelination, or giliosis?

MRI brain results  Impression- there is cerebral atrophy with subcortical WMC, consistent wit microangiopathic disease, demyelination, or giliosis?

Covering the bases: That signal that is seen in patients who age is seen very frequently. Most of the time it is what has become known as microangiopathic disease or small vessel disease. Demyelination and gliosis come with a more notable history. Gliosis or scarring and demyelination also produces symptoms that MRI is useful for. Depends on why you had the MRI in the first place. The first entity more common than 2 ...Read more

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38 yo male, history epilepsy (med controlled), closed tbi (12/2011). Slurred speech, hand tremor, unsteady gait, confused, lethargic, normal pupils.

38 yo male, history epilepsy (med controlled), closed tbi (12/2011). Slurred speech, hand tremor, unsteady gait, confused, lethargic, normal pupils.

Timeline?: Your description does not state if all of these changes represent a change from the baseline, are new or chronic. If they are new then i would recommend going to your closest emergency room right away, if they are chronic and old then i would discuss this with your doctor as they could be consistent with traumatic brain injury. ...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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What illnesses cause ataxia and hyperreflexia?

Some answers: Illnesses that affect the cerebellum and corticospinal tract, or the dorsal columns and corticospinal tract can cause these findings. Stroke is probably the most common, MS is also a possible explanation, there are also others (trauma, infection, neoplastic disease, etc.) ...Read more

Dr. Ted King
334 doctors shared insights

Spider Veins (Definition)

Spider veins = (telangiectasia or venulectasias), very small purple ...Read more


Dr. Ted King
95 doctors shared insights

Telangiectasia (Definition)

Small blood vessels on surface of the skin Also ...Read more