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Doctor insights on: Handling Ataxia Telangiectasia Condition

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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. Lois Freisleben-Cook
197 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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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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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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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 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 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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Why are people with harlequin type ichthyosis disease born with red eyes?

Why are people with harlequin type ichthyosis disease born with red eyes?

The eyelids...: The eyelids of these children often are rolled out and pulled away for the eyes. This exposes the inside surface of the eyelids which is very vascular and causes the eyes to be exposed and become irritated. In addition, the eyes can often bleed. It is a very difficult situation. ...Read more

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Living with hht (hereditary hemorrhagic telangiectasia), how to make things better?

Living with hht (hereditary hemorrhagic telangiectasia), how to make things better?

Treat iron deficienc: There is no cure for hht hereditary hemorrhagic telangiectasia. The most important things are to avoid complications like iron deficiency anemia, which is common. ...Read more

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Is sturge weber syndrome is progressive disease?

Is sturge weber syndrome is progressive disease?

Not progressive: But will always need follow up eye exams to monitor for possible glaucoma. ...Read more

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How is Parkinson's disease inherited?

Mostly not inherited: The vast majority of people with parkinson's seem to get it sporadically, that is without any clear inheritance from family. That being said, we've found around 12 genetic variants that seem to greatly increase the risk of developing pd in some families. Some of them are recessive (rarely crops up), and some are dominant (50% chance of getting it from 1 affected parent). ...Read more

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Is juxtaforeal telangiectasia an autoimmune disease?

Is juxtaforeal telangiectasia an autoimmune disease?

Unknown: Juxtafoveal telangiectasia is termed "ideopathic" meaning the cause is yet unknown; whether there is an autoimmune component is not known/. ...Read more

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Which type of genetic disorder is raynauds disease?

Vascular Disease: While there is an obvious genetic predisposition for everything that happens to us, raynauds disease involves spasm of the muscular lining of the arteries. In cold weather they shrink, and hot weather makes them dilate but they do so maximally. Ask your dr. About Pletal (cilostazol) which has shown excellent results in treatment. ...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 are von hippel - lindau disease and lennox/gastaut syndrome.?

What are von hippel - lindau disease and lennox/gastaut syndrome.?

Syndromes: Von Hippel-Lindau syndrome is a genetic disorder that leads to the developement of many different types of tumors. Lennox Gastaut syndrome is a disorder in which the victim has many seizures. Both are severe, and a person with either one should have a doctor familiar with its treatment ...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 type of genetic disorder is Alzheimer's disease?

What type of genetic disorder is Alzheimer's disease?

Some contribution: There are several rare genetic issues which cause younger symptoms, and these include mutations in ps-1, ps-2, and app genetics. The main potential risk factor involves apolipoprotein epsilon-4 alleles, and the homozygous pattern is the highest risk, and the epsilon-2 pattern relatively protective. ...Read more

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What is hemorrhagic telangiectasia also known as oslo weber rendu syndrome?

Same: Oslo rendu weber involves vascular malformations on mucosal surfaces and is a congenital genetic disease. These vascular abnormalities frequently bleed. ...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
38 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