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Quickly Ataxia Telangiectasia Treatment
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
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
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
Prevention: Fa is the most common hereditary ataxia. It is due in most to trinucleotide repeat expansions in the first intron of the frataxin gene resulting in a deficiency of the protein.Treament is symptomatic of the many associated complications. Molecular analysis is essential to prevent its occurrence in subsequent generations. ...Read more
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
Unlikely: Though anesthetics do have an effect on the brain, it is unlikely that they would cause this problem. The anesthetics that we use can decrease blood flow to certain areas of the brain, so they might unmask a pre-existing psp, but again that is speculation. I would talk to your neurologist about this problem. ...Read moreSee 1 more doctor answer
What does this mean: urticarial change including deep dermal fibrosis with underlying morphea and telangiectasia with melanin incontinence?
Talk to derm: From what i can see, the skin rash is from hives and the scarring from scratching. I have never heard of the term melanin incontinence so I have no idea what it means. The best thing is for you to discuss this with the derm doctor who did the biopsy. ...Read moreSee 1 more doctor answer
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
Investigate: Most people with hht just have dilated tiny blood vessels visible in their skin, but the abnormal blood vessels can occur anywhere in the body and you would want to have a doctor investigate, especially to make sure you don't have a vascular lesion or aneurism in the brain that could cause more serious trouble. ...Read more
Complex Q: Everyone is different. If a person has been diagnosed with hht they should see a doctor regularly who can direct their care and screen for complications. More information can be found at http://hht.Org/about-hht/. ...Read more
Neurology - how quickly does Lambert Eaton Myasthenic Syndrome (LEMS) progress from experiencing the initial symptoms to when it becomes debilitating?
Do you have it?: Please repost & state whether you've been diagnosed with LEMS. It's an EXTREMELY rare condition, almost always associated with cancer, usually lung cancer. Even neuro-oncologists see it only rarely. Not being a neuro-oncologist, I think I've seen maybe one case in my entire career, and I'm not even sure about that one. ...Read more
Triplet repeats....: All three are caused by a form of genetic instability involving dna triplet repeats, however they affect three different genes and cause three different diseases: freidrich's = degenerative neuro-muscular disorder; fragilex = mental retardation and behavioral disorder; and myotonic = progressive muscle wasting and weakness. ...Read more
Which person discovered hereditary hemorrhagic telangiectasia (hht). It is a genetic disease. Also how did they?
See below: Osler–weber–rendu disease osler–weber–rendu syndrome, is a genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain. Named after the doctors that described the syndrome.-. ...Read more
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