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Doctor insights on: Ataxia Telangiectasia In Children

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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. Scott Keith
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 is the cure of ataxia telangiectasia?

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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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 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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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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Please tell me what causes ataxia telangiectasia!?

Please tell me what causes ataxia telangiectasia!?

Genetic disorder: Louis–bar syndrome) is a rare, neurodegenerative, inherited disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels. A-t is caused by a defect in the atm gene, causing the gradual difficulty in coordination in walking, eye movements, etc. ...Read more

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Does anyone know of any good sites for information about ataxia telangiectasia?

Try these: I would refer to the national institute of health page at: http://www. Ninds. Nih. Gov/disorders/a_t/a-t.Htm

as well as the national cancer institutes site at http://www. Cancer. Gov/cancertopics/factsheet/risk/ataxia

these sites document frequent causes of morbidity in at, notably the ataxia as well as susceptibility to malignancy and immunocompromise that occur in this condition. ...Read more

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What is the treatment for 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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Could I be suffering from either early onset Parkinson's or ataxia telangiectasia?

Could I be suffering from either early onset Parkinson's or ataxia telangiectasia?

What symptoms?: What symptoms are you experiencing? Ataxia telangiectasia is a genetic condition that manifests in children, so it is unlikely that you are developing this condition now. However, without any more details, it is difficult to point you in any particular direction. ...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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How can I tell if my son is suffering from either early onset Parkinson's or ataxia telangiectasia?

How can I tell if my son is suffering from either early onset Parkinson's or ataxia telangiectasia?

How old is he? What: Are his symptoms? I assume he is an adult, in which case you can only encourage him to see his primary care provider. If your son has altered gait, tremors &/or other neurological signs & symptoms, he'll probablybe referred to a neurologist. Such symptoms warrant evaluation & treatment, but it's his choice to seek medical care. ...Read more

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What do you suggest if my son is suffering from either early onset Parkinson's or ataxia telangiectasia?

What do you suggest if my son is suffering from either early onset Parkinson's or ataxia telangiectasia?

Totally different!: See a neurologist. The two conditions are totally different and can be diagnosed relatively easily by a specialist ...Read more

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What is the relation between the nature and symptoms of xeroderma pigmentosum and ataxia telangiectasia?

What is the relation between the nature and symptoms of xeroderma pigmentosum and ataxia telangiectasia?

Deficiency in some: Part of cell mechanisms that detect & repair damage to DNA molecules that encode their genome occur in 5 inherited diseases: ataxia-telangiectasia (AT), Fanconi anemia, Bloom syndrome, Cockayne syndrome & Xeroderma Pigmentosum (XP).7 different mutant repair genes cause XP; types A, C, D & E are on Chromosome 9q.22. Mutations in ATM genes cause AT. Groups A, C, D & E are on Chromosome 11q2. ...Read more

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Should I be concerned if my son is suffering from either early onset Parkinson's or ataxia telangiectasia?

They can be serious: Early onset parkinson's disease or ataxia telangiectasia
can be serious conditions that need regular medical care. ...Read more

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It has been difficult finding a doctor who understands this condition and wants to help treat it. If you could help me, I would appreciate it......?

It has been difficult finding a doctor who understands this condition and wants to help treat it. If you could help me, I would appreciate it......?

You need to see a doctor.: Undoubtedly, you have experienced a lot of stress in the recent past and presently have a child to care for, which does not help. Not withstanding the possibility of a PTSD / anxiety related disorder, my recommendation is that you see any physician in your vicinity. Family Med, Internal Med, Neurologist, ENT, etc. You begin by telling them of your current poor balance, loss of coordination, dizziness and extremity numbness only. This warrants an MRI of the head. You need a physical exam and some bloodwork done. Based on your evaluation and the test results, that physician will direct you to the necessary specialist if it is indeed warranted. ...Read more

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What kind of person is friedrich's ataxia most likely to affect?

Seek genetic counsel: The one whose parents are both carriers or the offspring of an affected individual (1 in 4 chance). ...Read more

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What illnesses can cause ataxia and hyperreflexia?

What illnesses can cause ataxia and hyperreflexia?

Here are a few: May see with spinocerebellar degenerations, such a freidrich's ataxia, not unique to find in multiple sclerosis, might see with von hippel lindau syndrome, sometimes occurs with lupus, vasculitis, sjogren's. Occasionally a meningioma at the base of brain can present this way. Some brainstem strokes do this. Might go to wikepedia, or a site such as mayo clinic, as more information in depth there. ...Read more

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How to describe someone with fredrich ataxia, beside they always shake?

FA symptoms: A person with scanning speech, unsteady gait that is getting worse, frequent falls, probably diabetic or in need of such evaluation; may be hard of hearing and with high arches. Condition having started before age 25 years. He or she may have been told of an abnormal electrocardiogram also. ...Read more

Dr. Alan Ali Dr. Ali
4 doctors agreed:
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Cant get rid of my ataxia, what now?

Dr. Alan Ali Dr. Ali
4 doctors agreed:

Ataxia: Ask your PCP for referral to a Neurologist ...Read more

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How can the spinocerebellar ataxia harm people?

How can the spinocerebellar ataxia harm people?

Unsteadiness: Ataxia causes unsteadiness and falls can occur. ...Read more

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Can there be any cure for spinocerebellar ataxia?

Unfortunately no: Unfortunately, there is no cure for spinocerebellar ataxia. Rehabilitation programs help people maintain function as the disease progresses. ...Read more

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Is severe night time cramping a symptom of ataxia?

Usually not: Ataxia refers to a dyscoordination where a person has trouble with gait, balance, fine motor activity. Nocturnal cramping, particularly of the legs, is usually due to an electrolyte imbalance such as low potassium. When one runs, it depletes the potassium stores in the leg muscles. That is why many runners use the gatorade type drinks to replenish their electrolytes. ...Read more

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How does freidreich's ataxia differ from fragile x?

Completely different: These are completely different diseases. Both are genetic diseases. Freidreich's ataxia is an autosomal recessive abnormality of the fxn gene causing neurological disease, cardiomyopathy, and diabetes.
Fragile x is an x-linked disorder causing mental retardation and autism. ...Read more

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Is memory loss normal in patients with? Friedreich's ataxia?

Is memory loss normal in patients with? Friedreich's ataxia?

Frederick's Ataxia: This type of ataxia involves the spinal cord & peripheral nerves, hence memory loss is not part of it. ...Read more

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Is there any thing that I can take or do cerebellum ataxia degenerative?

Is there any thing that I can take or do cerebellum ataxia degenerative?

Evaluation: The essential task is searching for a treatable cause with your neurologist. The differential diagnosis of ataxia is long--be detailed ; thorough with notes re. Other symptoms. Meanwhile, supportive rx = physical ; occupational therapy, adaptive medical equipment (ex. Shower grab bar, walker). We don't have cures for most hereditary ataxias, but work closely with your neurologist. Good luck! ...Read more

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When was spinocerebellar ataxia discovered? What was it originally misdiagnosed as?

When was spinocerebellar ataxia discovered? What was it originally misdiagnosed as?

Unclear question: SCA wasn't "discovered" any more than heart failure, epilepsy and schizophrenia were discovered. They've always been with us. SCA was first systematically DESCRIBED in the 19th century. It wasn't "misdiagnosed" as anything. The CAUSES of SCA have been discovered only recently. There are at least 50 different types of SCA. Are you asking about any one in particular? ...Read more

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Recently diagnosis with Spinocerebeal ataxia what is this. I also have torsion dystonia what's physical prognosis?

Recently diagnosis with Spinocerebeal ataxia what is this. I also have torsion dystonia what's physical prognosis?

Dystonia: You need to consult a Neurologist for further clarification of your diagnosis. It is an inherited condition involving a part of the brain called Cerebellum : responsible for movements. As for Inherited Dystonia it is usually associated with higher Intelligence. Best of luck. ...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 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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Is there a cure for cerebellar ataxia?

Is there a cure for cerebellar ataxia?

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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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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Drs, is friedrich's ataxia be considered a learning disability?

Drs, is friedrich's ataxia be considered a learning disability?

No.: This inherited, degenerative disorder affects many parts of the body, including the brain, as it progresses, but it is not associated with a specific lowered performance in some area of academic functioning, which is how LD is defined. ...Read more

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How do people cope with ataxia?

A few tricks: Ataxia, or incoordination and gait imbalance, may be associated with acquired or inherited disease. A good physical therapist could provide gait training, and an occupational therapist could benefit arm incoordination. Canadian crutches, walkers, braces and splints may benefit. Wrist and ankle weights can stabilize. Rarely Buspirone might help. ...Read more

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With what meds do you treat ataxia?

Ataxia: Ataxia is usually caused by a neurodegenerative condition such as from acute and chronic alcoholism, a number of hereditary degenerative disease, a stroke or bleeding, particularly in the hind part of the brain (cerebellum), or sometimes by dysfunction of the vestibular nerve that controls balance. There no specific medications to treat this symptom. The cause has to be treated or go away. ...Read more

Dr. Neigatha Graney
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