Ataxia telangiectasia

What is Ataxia telangiectasia?

Ataxia telangiectasia (AT) (also referred to as Louis–Bar syndrome) is a rare, neurodegenerative, inherited disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease.

Questions and answers on "Ataxia telangiectasia"

My grandaughter was born 3 and a half weeks early she is a mixed baby -she has a coffee stain on her back just like her Mom but the doctor says he thinks it might be something else so he has ordered an ultrasound - what could he be looking for -She is also a little jaundiced

doctor1 MD

Brief Answer:
Doctor is making sure that her brain is perfect.

Detailed Answer:
Hi,

Thanks for posting this question. I am a trained neonatologist, hence I take this opportunity to help you.

What you rightly call coffee stain, we call it Café au lait spot, which is a french word but means the...

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I have 7 week old baby with spider veins on his ears and cheeks. Is this normal? He seems to be a rather "veiny" baby as more normal (not spidery) veins are visible on his forehead. I'm worried about that rare disorder ataxia telangiectasia. Why would a 7 week old baby have spider veins?

doctor1 MD

Hi
Welcome to Healthcare-Magic
Greetings

Telangiectasia has fine webby reddish dilatation of blood vessels.
From the description given by you they are visible veins, which is perfectly normal in many of babies.

There is no cause for oncern, regular assessment by Pediatrician will be very...

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Hello. Is it possible to get wobbly legs, dizzyiness and to fall over with Apraxia? (no coordination or speach problems)

doctor1 MD

Hi, thanks for using healthcare magic

Apraxia is the lack of the ability to carry out purposeful learned movements even though the desire and physical ability to perform the movements is there and the persons understands the request.There are different forms of apraxia.
Ataxia is lack of...

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Hi Doc. I just got prescribed with Godex DX Capsules in the phillipines by a Gastroentorololist. becasue of my high Alpha-Pretoprotein results. Normal range is 0.0 - 9.0 but my reading was 48729.00. Jus wondering if this is correct diagnosis?

She recommended that I see an oncologist because the CT scan and the MRI that I took is not revealing and abnormal growth in my liver to signal cancer or serious cerrisis of the liver. Should I be concern a bout liver cancer or Severe cerissis based on my Alpha-petroprotein results?

doctor1 MD

Brief Answer:
Visit an Oncologist

Detailed Answer:
Hello! Thanks for putting your query in HCM. I am Dr.Amit Jain (DM, Gastroenterologist).Alpha feto protein is a tumour marker and it is raised in many other tumours apart from liver cancer. Also like any elevated tumor marker, elevated AFP by...

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my father had CML Leukemia…Is it hereditary? Also a very distant cousin has ALL… Is there any way that this is related?

doctor1 MD

Brief Answer:
Hereditary relation

Detailed Answer:
Hi Patti
I am very sad to hear that your father and cousin are suffering from leukemia.
Heredity can also contribute to leukemia causes. Inherited diseases, like Fanconi anemia and ataxia telangiectasia, increase the chances of developing...

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My 3year son had very small mild redness like on left eye lat aspect of eyeball When we wentbto dr she told it look like normal blood vessel And gave wincop drops once daily on 3rd of november My son has no irritation or no watering from eyes Nowit looks like a 10% more after using drops Shall I stop the drops

doctor1 MD

Brief Answer:
Exclude ocular telangiectasia

Detailed Answer:
Hello XXXXXXX

Welcome to Healthcare Magic.

Thank you for uploading the eye pictures of your son which does not look like classical conjunctivitis.
In conjunctivitis, the white portion of the eye gets red, and is commonly due to a viral infection...

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Recent questions on  Ataxia telangiectasia

doctor1 MD

Hi Doc. I just got prescribed with Godex DX Capsules in the phillipines by a Gastroentorololist. becasue of my high Alpha-Pretoprotein results. Normal range is 0.0 - 9.0 but my reading was 48729.00. Jus wondering if this is correct diagnosis? She...

doctor1 MD

my father had CML Leukemia…Is it hereditary? Also a very distant cousin has ALL… Is there any way that this is related?

doctor1 MD

I have 7 week old baby with spider veins on his ears and cheeks. Is this normal? He seems to be a rather "veiny" baby as more normal (not spidery) veins are visible on his forehead. I'm worried about that rare disorder ataxia telangiectasia. Why would a 7 week old baby have spider veins?

doctor1 MD

My 3year son had very small mild redness like on left eye lat aspect of eyeball When we wentbto dr she told it look like normal blood vessel And gave wincop drops once daily on 3rd of november My son has no irritation or no watering from eyes...

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