Discussions By Condition: I cannot get a diagnosis.

Many Years, umpteen docs, still no answer!

Posted In: I cannot get a diagnosis. 10 Replies
  • Posted By: applelady
  • February 23, 2008
  • 05:46 PM

My problem is muscle pain, primarily in the legs, but can be all over. This probably is metabolic or biochemical, and produces contractures. My palms are cupped, and I cannot flatten them anymore. My fingers are a little misshapen, but not too noticeable. My lower legs are being pulled toward the outside, so my legs are not straight anymore. Since this contracture goes against the normal direction of the knee, it is harder to walk, get up out of a chair, and climb stairs. Digestive symptoms include bouts of high volume urine about the color of dandelions, and frequent loose stools, which can be either normal or yellow ocher in color. Impacts of this disorder can include chills, difficulty breathing, or cardiac arrythmias. This is probably genetic, autosomal dominant, and probably came from Scotland, and becomes obvious in middle age. Any ideas or suggestions? Anybody know what this is? At this point, I don't have any docs working with me anymore.

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  • Have you been to a geneticist and have genetic testing done? Why are you not seeing any docs? Would you see a holistic practitioner? Are you taking any medications currently? I would get genetic testing to rule out diseases such as Wilson's disease, which can be fatal if untreated but is relatively simple to treat. When did your symptoms appear and how old are you? Best wishesDOM
    acuann 3080 Replies
    • February 23, 2008
    • 06:51 PM
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  • I have been to two geneticists, and neither one helped me or tested me for anything. I have seen three neurologists, ditto. Two said my nerves were normal, the third said my needle EMG resembles restless legs syndrome. Trouble is, I don't have any of the symptoms of restless legs syndrome. I had a muscle biopsy, which was positive for preferrential type 2 fiber atrophy, but not much else which I understand is a non-specific finding. Routine blood tests looked pretty normal. The last three specialists I saw didn't run a single test. They just said they couldn't help me. The last regular doc pretty much gave up, and said she couldn't help me. I would love to have DNA testing done, but so far, no one has been willing to do it. I don't take any drugs, just supplements. Besides vitamins and minerals, I take L-carnitine, which seems to help my muscles. Magnesium seems to help stabilize my fluid balance and reduce cardiac symptoms. I am also taking an enzyme preparation that a holistic doc gave me, but it isn't doing anything.
    applelady 5 Replies
    • February 23, 2008
    • 08:17 PM
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  • One more thing. I am a 58 year old female, and the first tests were started around 1992.
    applelady 5 Replies
    • February 23, 2008
    • 08:19 PM
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  • I have seen 2 geneticists, 3 neurologists, and one holistic doc. None of them were able to help me. I would love to have some DNA testing done, but so far, no doc has ordered it. Routine blood tests, at least the ones that were done, looked pretty normal. A muscle biopsy came back positive for preferrential type 2 fiber atrophy. I take vitamins and minerals, plus L-Carnitine. It seems to help my muscle metabolism. I also find extra magnesium helpful in maintaining my fluid balance and reducing cardiac symptoms. A holistic doc gave me some enzymes, but they don't seem to be doing anything.
    applelady 5 Replies
    • February 23, 2008
    • 08:30 PM
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  • Have you ever been tested for porphyria? Some types of porphyria are auto-somonal dominant. Some types are associated with some Scottish families. Colored urine, urine volume changes, loose stools, can go along with porhyria. The leg thingy could be porphyria... many porphyiria patients get bone and muscle abnormalities form things such as deficiencies caused by malabsorbtion like Vit D deficiency. Muscle weakness can go along with it. So can the chills cardiac disarrythmia and breathing difficulties. Maybe one of the genetic porphyrias (they are rare and many drs consider them ZEBRAS). How is you liver?How are you around your menses?Do you have problems with medicines or certain foods?Any psych symptoms?Why aren't the drs working with you anymore?Who else in your family has it? What are their genders, ages they were first afflicted, their symptoms etc? Family Hx is important here. It is impossible to diagnose any genetic disease over the web--- all we can do is give you ideas on things to look into. Have you tried the symptom checker out yet?give it a whirl... you can punch in up to five symptoms on it .http://symptoms.wrongdiagnosis.com/ I will look up the porphyria links for you to check out... Also look into the muscular dystrophy diseases.... because iof the contractures My problem is muscle pain, primarily in the legs, but can be all over. This probably is metabolic or biochemical, and produces contractures. My palms are cupped, and I cannot flatten them anymore. My fingers are a little misshapen, but not too noticeable. My lower legs are being pulled toward the outside, so my legs are not straight anymore. Since this contracture goes against the normal direction of the knee, it is harder to walk, get up out of a chair, and climb stairs. Digestive symptoms include bouts of high volume urine about the color of dandelions, and frequent loose stools, which can be either normal or yellow ocher in color. Impacts of this disorder can include chills, difficulty breathing, or cardiac arrythmias. This is probably genetic, autosomal dominant, and probably came from Scotland, and becomes obvious in middle age. Any ideas or suggestions? Anybody know what this is? At this point, I don't have any docs working with me anymore.
    TaylorDeelwithit 382 Replies
    • February 23, 2008
    • 10:09 PM
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  • I would be checked out by a GI dr, an endocrinologist, hematologist, a dr that specializes in the liver.... has that been done yet? Can you get evaluated by a good medical school in their GI and metabolic diseases department? Are you close to MAYO?:eek: Here on this message are some porphyria links I dug up for someone else earlier... ;) http://forums.wrongdiagnosis.com/showpost.php?p=79061&postcount=5\ I have seen 2 geneticists, 3 neurologists, and one holistic doc. None of them were able to help me. I would love to have some DNA testing done, but so far, no doc has ordered it. Routine blood tests, at least the ones that were done, looked pretty normal. A muscle biopsy came back positive for preferrential type 2 fiber atrophy. I take vitamins and minerals, plus L-Carnitine. It seems to help my muscle metabolism. I also find extra magnesium helpful in maintaining my fluid balance and reducing cardiac symptoms. A holistic doc gave me some enzymes, but they don't seem to be doing anything.
    TaylorDeelwithit 382 Replies
    • February 23, 2008
    • 10:22 PM
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  • This is probably genetic, autosomal dominant, and probably came from Scotland, and becomes obvious in middle age. Any ideas or suggestions? Anybody know what this is? Im curious about why you say that? How do you know it is genetic, autosomal dominant and probably comes from Scotland but dont know what it is... unless you have other family members with the same problem?? Do you?
    taniaaust1 2267 Replies
    • February 24, 2008
    • 04:07 AM
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  • My problem is muscle pain, primarily in the legs, but can be all over. This probably is metabolic or biochemical, and produces contractures. My palms are cupped, and I cannot flatten them anymore. My fingers are a little misshapen, but not too noticeable. My lower legs are being pulled toward the outside, so my legs are not straight anymore. Since this contracture goes against the normal direction of the knee, it is harder to walk, get up out of a chair, and climb stairs. Digestive symptoms include bouts of high volume urine about the color of dandelions, and frequent loose stools, which can be either normal or yellow ocher in color. Impacts of this disorder can include chills, difficulty breathing, or cardiac arrythmias. This is probably genetic, autosomal dominant, and probably came from Scotland, and becomes obvious in middle age. Any ideas or suggestions? Anybody know what this is? At this point, I don't have any docs working with me anymore.At what age did this start?Does anyone else in your family have this condition?What is your nationality?Where there ant reflex abnormalities on your neurological exams and what were they?Thankyou
    Anonymous 42789 Replies
    • February 24, 2008
    • 01:23 PM
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  • Hi, Thanks for all the suggestions. I have been tested for porphyria twice. The docs that did the testing said that was not it. I have a lot of problems with meds. Prednisone caused a huge hyperacid response that I was afraid I would not recover from! Others cause cardiac arrythmias, mostly v-tach. Foods that cause me problems are ones containing sulforaphane, sulfites, and peppers and spices made from peppers. Could this all be related to a metabolic problem digesting complex sulfur compounds? No, there are no psych or mentation problems associated with this. I think most of the docs don't have the time or will to deal with something that is going to take more of an effort than most. Maybe not worth their time, money-wise? This came down the family pipe-line from my father, his father, and his father, etc. Family stories take it back to at least 1400. My father and grandfather died 4 months apart in 1958, possibly from an adverse reaction to sulfonamides. Does anyone have any experience with myotonia? Can myotonia cause contractures like this?Can you get a vague muscle biopsy result like I did with myotonia of some type? Thanks again for all the suggestions.
    applelady 5 Replies
    • February 24, 2008
    • 09:12 PM
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  • I was tested for porphyria twice. Those tests were negative. My reflexes were +2 at the biceps, knees, and ankles. This comes down the family pipeline from my father, from his father, and his father....all of Scottish ancestry. According to family stories, it may have been in our family for 600 years or more. My father and grandfather died 4 months apart in 1958, both of which could have been triggered by sulfa drugs. Does anyone know if this can be triggered by a sulfur intolerance? Foods that bother me are sulforaphane, sulfites, and pepper family foods and spices, also sulfur loaded. Can sulfur do all of this? Does anyone know if the myotonias can cause contractures? What all can be the cause of preferrential type 2 fiber atrophy? Thanks for all the suggestions.
    applelady 5 Replies
    • February 25, 2008
    • 09:55 PM
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