Doctor insights on:
Eliminate 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
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
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
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
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
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
Can my neurological disease of spinocelebar ataxia cause irritable bowel syndrome with. Constipation?
Generic comments: Spinocerebellar ataxias are hereditary conditions, which may have features of Multiple Sclerosis, Parkinson's disease, and even blend into pernicious anemia signs. . Other disorders can indeed be confused with SCA's. However, most neurologists can skillfully sort out characteristics, and provide definitive conclusive testing to arrive at correct diagnosis. ...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
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
Tongue fasciculations + bulbar weakness associated with fatigability from eating, prolonged talking/social interactions. Potential causes? Neurologic?
Yes: Many possibilities come to mind but without a physcial exam and good history it is not possible to be sure. I see you have dysautonomia. Your symptoms are not due to that. They may be a form of chorea or an inflammatory process such as can occur after untreated strep infection (i.e. variant of Sydenham chorea) or MS. The fact that you have other neuropathy is concerningThese are only a few of many possibilities, however, so I would make sure that you Take this information to your neurologist right away ...Read more
Variety of causes...: The causes of spinocerebellar ataxia span several pages, but can be categorized as: hereditary, infectious, medication-related, alcohol-related, traumatic, vitamin deficiency related, etc. The start of an evaluation for ataxia includes a detailed neurological exam by a movement disorder specialist and a brain MRI to see whether the cerebellum is indeed shrinking. ...Read more
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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