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Doctor insights on: Worst Ataxia Telangiectasia Symptom

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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. Barbara Lavi
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 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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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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Is restless legs a symptom of fatal familia insomnia and sporadic fatal insomnia?

Is restless legs a symptom of fatal familia insomnia and sporadic fatal insomnia?

Not likely: Rls syndrome is unusual feeling of needing to move legs when trying to sleep. Reversible causes could be anemia or low red blood cells. Can be idiopathic (reasons uncertain) and falls in movement disorders and some parkinson drugs help. ...Read more

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What sort of problem is ataxia telangiectasia?

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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Is headache a symptom of sporadic fatal insomnia?

Holy cow!: When u hear hoofbeats on the bridge don't think first of unicorns! :). ...Read more

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Seroquel (quetiapine) makes my un-dx condition worse. Symptoms are heart pain, almost paralyzed due to extreme somnolence, severe cognitive impairment.. Causes?

Seroquel (quetiapine) makes my un-dx condition worse. Symptoms are heart pain, almost paralyzed due to extreme somnolence, severe cognitive impairment.. Causes?

Seroquel (quetiapine): Seroquel (quetiapine) can be very sedating -- more so depending on increased dose. It can also cause "cognitive impairment." I have no idea from here what you were like before the medication, but it sounds like you need a thorough medical evaluation. A psychiatrist may need to also be involved in your care -- and you need to tell whoever is prescribing the seroquel (quetiapine) about what you're experiencing. ...Read more

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Is nasuea a symptom of fatal familia insomnia or sporadic fatal insomnia?

Is nasuea a symptom of fatal familia insomnia or sporadic fatal insomnia?

Nausea: Nausea can come along with many types of conditions. However, it's not a symptom leading to the diagnosis of any kind of fatal insomnia [an exceedingly rare condition anyway]. Here's a site with all kinds of information about nausea: http://www.Emedicinehealth.Com/vomiting_and_nausea/article_em.Htm. ...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 are the symptoms of ataxia telangiectasia?

What are the symptoms of ataxia telangiectasia?

Many components: This is a recessive inherited disorder with many manifestations, most starting in early childhood including ataxic (drunken like) walking, peculiar eye tracking motions which inhibit learning, telangiectasia which are dilated blood vessels especially prominent on the eyes but also in sun exposed areas, and many other problems. Your pediatrician can help with diagnosis and management. ...Read more

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Symptoms of huntingtons disease, is it fatal?

Symptoms of huntingtons disease, is it fatal?

No cure but treatmen: It is a relentless, progressive degenerative neurological disease. There is no cure for the disease. The symptoms include chorea (dance-like movements) for which there is an fda approved medicine and psychiatric symptoms usually with disinhibition. Any child of a patient has a 50% chance of inheriting the disease. One should see a movement disorders neurologist for treatment. ...Read more

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Dr. Alan Ali Dr. Ali
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What are presenting symptoms of Huntington disease?

Dr. Alan Ali Dr. Ali
2 doctors agreed:
What are presenting symptoms of Huntington disease?

Huntington: It is a neurodegenerative genetic disorder that affects muscle coordination & leads to cognitive deficits & psychiatric problems. Symptoms become noticeable between ages 35 & 45, & include jerky random uncontrollable movements called chorea, memory problems, mood changes, etc. ...Read more

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What are the common presenting symptoms of von hippel-lindau disease?

What are the common presenting symptoms of von hippel-lindau disease?

Autosomal dom: Hereditary disorder associated with presence of hemangioblastomas, and secondary headaches, incoordination and imbalance, with loss of vision. Big problem is association with retinal lesions, kidney cancer, and pheochromocytomas. ...Read more

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What are the common presenting symptoms of wernicke encephalopathy?

What are the common presenting symptoms of wernicke encephalopathy?

Wernicke's: Wernicke's encephalopathy is a serious neurologic disorder related to thiamine deficiency, and seen frequently in chronic alcoholics. The presenting triad of symptoms is confusion, ataxia, and ophthalmoplegia (inability to move the eyes). In advanced cases you might also see memory loss and confabulation -- the person fills in what isn't recalled, with stories that could sound okay, but aren't. ...Read more

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Is swollen tongue a symptom of lou gehrig's disease?

Is swollen tongue a symptom of lou gehrig's disease?

Not directly: They is some evidence that shows damage to parts of the brain resulting from the disease causing swallowing difficulty but not necessarily from hypertrophy of the tongue. ...Read more

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Tremors in hands, weak legs, mem issues, cognitive decline, apathy, blurry vision, tach, headache, floaters...Could it be parkinsons? Dementia? Als?

Tremors in hands, weak legs, mem issues, cognitive decline, apathy, blurry vision, tach, headache, floaters...Could it be parkinsons? Dementia? Als?

See a neurologist: Only detailed history and neurological exam. Can determine. It could simply be anxiety neurosis but other conditions need to be ruled out first. ...Read more

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Is headache a common symptom of chronic fatigue syndrome?

Is headache a common symptom of chronic fatigue syndrome?

Yes: There is a fair amount of overlap between chronic fatigue, fibromyalgia, and chronic daily headache syndromes. Patients with of them commonly report headaches and difficulty falling asleep. ...Read more

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Can celiac cause neurological symptoms like ataxia?

Can celiac cause neurological symptoms like ataxia?

Yes: Neurological complications of gluten enteropathy are rare but recognized. Cerebellar involvement is one of the recognized syndromic manifestations. A neurologist should be consulted. Strict dietary compliance doesn't prevent these complications although as noted they are rare. ...Read more

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Dr. Thomas Fiala
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