Discussions By Condition: I cannot get a diagnosis.

getting worse: woman, 40, cerebelum atrophy suggestion, difficulty to walk and speech

Posted In: I cannot get a diagnosis. 5 Replies
  • Posted By: moyamada
  • January 11, 2009
  • 00:07 PM

Please...our family is desperate to get a diagnosis...woman, 40 year-old, weight loss, difficult of walk (she walks like a child learning to walk...) difficulty of speech, weight loss. Went to several doctors, specially neurologists and no images showing degenerative process but a little sign of cerebelum atrophy. Nothing wrong in blood tests. Thank you very much

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5 Replies:

  • has she got a lot of other symptoms going on as well?? insomina, pain, headaches, over sleeping, memory and concentration issues etc. If she has other symptoms as well please share.
    taniaaust1 2267 Replies
    • January 11, 2009
    • 00:56 PM
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  • Insomnia, lost of interest, but her memory is ok. Her voice is getting weak and she has difficult to talk. Curiously, the hospitals we went made a multi-specialties evaluation and no one could tell us what is wrong. And nothing expressive is shown on brain images (cerebellar ) as we were supposed to see.She is tired of tests and I think there is something to do with a depressive state (not exagerate, but apathic) she has been for years...but now we have to find what it caused in the body so we can treat. Thank you so much for the attention. has she got a lot of other symptoms going on as well?? insomina, pain, headaches, over sleeping, memory and concentration issues etc. If she has other symptoms as well please share.
    moyamada 3 Replies
    • January 11, 2009
    • 01:12 PM
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  • I need for you to be more descriptive for me regarding the features of her symptoms. Did the symptoms start abruptly or has it been more insidious or slowly progressive? Are the symptoms sporadic or steady? The most common cause for the symptoms being described would be spinocerebellar ataxia, or SCA, and type 2 being the most frequently encountered in the US and type 3 in Europe. The average age of onset is 40 years, which would be consistent here. Realize, however, that to pinpoint whether this is the most likely case, direct evaluation and observation would be necessary. Cerebellar atrophy is a common finding, but can be associated with other neurological pathology as well. Most patients with ataxia typically demonstrate some form of dysarthria or speech problems as well. Also, tell me whether the doctors noted the presence of nystagmus, which is a jerking type movement of the eyes. Also of great importance would be whether the doctors performed a spinal tap and the results of that test. Symptoms of clinical depression is also a common finding among patients with spinocerebellar ataxia. I also want to inquire whether the problem is limited to walking or does she have spasticity or jerking type movements while sitting still, either just in her legs or the body in general? Is any spastic movement noted during sleep? Has she also complained of any numbness in her hands or feet? If you can provide answers to these questions, it would be helpful in providing you with some direction. Best regards, J Cottle, MD
    JCottleMD 580 Replies
    • January 11, 2009
    • 01:33 PM
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  • Thank you so much for the attention!!! We got really hopeful.Other information:SPEECH: she presents difficult to articulate words and weakness in her voice ( hoarseness)SPASTICITY: nothing during her sleep but she had some episodes of spastic movement in her feet (both). Nothing different in her eyes.NUMBNESS: noneINMSONIA: noneHEADACHE: noPAIN: general in her body specially in her lombar regionMEMORY: normalCONCENTRATION: getting worseSLEEP: normally, but a litte anxious and irritated during the dayTEST RESULTS: normal in the spinal tap and also went through antiYO (Purkinge) sent to US which was normal too. Some doctors want to " test" treating with cortisone even not knowing what is wrong. Is it common?If SCA, is there any treatment? What is the prognostics?Thank you very much. All your answers just show how great you are ... your attention and care.
    moyamada 3 Replies
    • January 11, 2009
    • 08:26 PM
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  • Thank you so much for the attention!!!Other information:SPEECH: she presents difficult to articulate words and weakness in her voice ( hoarseness)SPASTICITY: nothing during her sleep but she had some episodes of spastic movement in her feet (both). Nothing different in her eyes.NUMBNESS: noneINMSONIA: noneHEADACHE: noPAIN: general in her body specially in her lombar regionMEMORY: normalCONCENTRATION: getting worseSLEEP: normally, but a litte anxious and irritated during the dayTEST RESULTS: normal in the spinal tap and also went through antiYO (Purkinge) sent to US which was normal too.Some doctors want to " test" treating with cortisone even not knowing what is wrong. Is it common?If SCA, is there any treatment? What is the prognostics?Thank you very much. All your answers just show how great you are ... your attention and care. I need for you to be more descriptive for me regarding the features of her symptoms. Did the symptoms start abruptly or has it been more insidious or slowly progressive? Are the symptoms sporadic or steady? The most common cause for the symptoms being described would be spinocerebellar ataxia, or SCA, and type 2 being the most frequently encountered in the US and type 3 in Europe. The average age of onset is 40 years, which would be consistent here. Realize, however, that to pinpoint whether this is the most likely case, direct evaluation and observation would be necessary. Cerebellar atrophy is a common finding, but can be associated with other neurological pathology as well. Most patients with ataxia typically demonstrate some form of dysarthria or speech problems as well. Also, tell me whether the doctors noted the presence of nystagmus, which is a jerking type movement of the eyes. Also of great importance would be whether the doctors performed a spinal tap and the results of that test. Symptoms of clinical depression is also a common finding among patients with spinocerebellar ataxia. I also want to inquire whether the problem is limited to walking or does she have spasticity or jerking type movements while sitting still, either just in her legs or the body in general? Is any spastic movement noted during sleep? Has she also complained of any numbness in her hands or feet? If you can provide answers to these questions, it would be helpful in providing you with some direction. Best regards, J Cottle, MD
    moyamada 3 Replies
    • January 12, 2009
    • 11:52 AM
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