Guest guest Posted September 13, 2004 Report Share Posted September 13, 2004 hi groupies, just a quick question about exercise tolerance tests. What are these tests called? Are there different kinds of them? Is checking O2 levels, lactic acid and pyruvate part of them. I had an abnormal ischemic forearm exercise test years ago (I think that is what it was called) and the results are lost somewhere in my file. i was thinking of asking my PCP to repeat these. Since i have basicly no endurance I figure that's when my problems should show up. Do I need to be referred to a specialist for them- ex. cardiologist, pulmonologist - which specialty? Can my PCP order them? Is the forearm test still done/ is there an exercise tolerance test when one actually exercises and has the relavent measurements taken. Also, I had pulmonary function tests done years ago also. They were slightly abnormal. Would it be a good idea to heave these repeated, since I am more symptomatic now? Any help appreciated, Celia Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 13, 2004 Report Share Posted September 13, 2004 Exercise tests can include simple things like repeatedly making a fist or climbing up and down a small flight of stairs. More sophisticated tests include maximal bicycle exercise testing that analyzes gas exchange and cardiac output or Doppler ultrasound measures of blood flow in exercising forearm. There is also strength testing on Cybex ergometer. In the US Haller MD is the expert who focuses on exercise testing in metabolic muscle disorders. In Canada, Mark Tarnopolsky MD PhD has an interest in exercise and most likely does exercise testing with his patients. Pasted below, diagnostic information on the forearm ischemic exercise test and other exercise tests for metabolic muscle disease. Barbara --------------------------- http://www.emedicine.com/neuro/topic672.htm Forearm ischemic exercise test: McArdle introduced this test in 1951. It is a useful screen to detect a possible enzymatic defect in the glycogenolytic and glycolysis pathways. In healthy subjects, lactate level should increase to 3-5 times the basal level in the first 2 samples after exercise and then decrease gradually to the baseline. Ammonia level also should increase after exercise. Ammonia level is useful not only as a monitor of sufficient exercise, but also as a test for myoadenylate deaminase deficiency (MAD deficiency). In glycogen storage diseases, such as McArdle disease, serum lactate levels do not increase after exercise (ie, flat lactate curve), while in lipid storage diseases, both lactate and ammonia levels increase in a normal fashion. In MAD deficiency, ammonia does not increase (ie, flat ammonia curve). On rare occasions, 2 enzyme defects are found in the same patient, such as myophosphorylase or phosphofructokinase defect along with myoadenylate deaminase defect. The latter usually is due to poor effort during exercise. --------------- Ann Neurol. 2003 Oct;54(4):539-42. A diagnostic cycle test for McArdle's disease. Vissing J, Haller RG. Department of Neurology and Copenhagen Muscle Research Center, National University Hospital, Rigshospitalet, Copenhagen, Denmark. vissing@... We investigated whether the second wind phenomenon (ie, a decrease in heart rate and perceived exertion during exercise) is pathognomonic for McArdle's disease. Twenty-four patients with McArdle's disease, 17 healthy subjects, and 25 patients with other inborn errors of muscle metabolism cycled a constant workload for 15 minutes. In McArdle's disease patients, heart rate consistently decreased by 35 +/- 3 beats per minute from the 7(th) to the 15(th) minute of exercise, whereas heart rate increased progressively with exercise in all 42 control subjects. The findings indicate that cycling at a moderate, constant workload provides a specific, sensitive, and simple diagnostic test for McArdle's disease ----------------------- Neurology. 2002 May 28;58(10):1533-8. A forearm exercise screening test for mitochondrial myopathy. Jensen TD, Kazemi-Esfarjani P, Skomorowska E, Vissing J. Copenhagen Muscle Research Center, Department of Neurology, National University Hospital, Rigshospitalet, Copenhagen, Denmark. BACKGROUND: The authors hypothesized that impaired oxygen extraction in mitochondrial myopathy (MM) results in a high oxygen saturation in venous effluent blood from working muscle and that this phenomenon can be used as a diagnostic tool for MM. METHODS: Twelve patients with MM, 10 patients with muscular dystrophy, and 12 healthy subjects were studied. All subjects performed intermittent static handgrip exercise (1/2 Hz) at 40% of maximal voluntary contraction (MVC) for 3 minutes. Cubital venous oxygen saturation and brachial artery flow were measured in the exercised arm. RESULTS: Exercise-induced venous oxygen desaturation was smaller in patients with MM (Delta - 7 +/- 5%) than in subjects with muscular dystrophy (Delta - 38 +/- 2%; p = 0.00001) and healthy subjects (Delta - 43 +/- 2%; p = 0.0000002). MVC and exercise blood flow were similar in patients with MM (18 +/- 3 kg; 436 +/- 65 mL/min) and patients with muscular dystrophy (15 +/- 3 kg; 460 +/- 85 mL/min), but were higher in healthy subjects (32 +/- 4 kg; 630 +/- 58 mL/min; p < 0.03). In seven patients with MM and seven patients with McArdle disease, studied with a slightly different protocol, exercise- induced oxygen desaturation was also impaired in MM (Delta - +/- 5%) compared with McArdle disease (Delta - 26 +/- 3%; p = 0.007). CONCLUSION: Oxygen desaturation in venous blood from exercising muscle is markedly lower in patients with mitochondrial myopathy than in subjects with other muscle diseases and healthy subjects, suggesting that a forearm exercise test can be a diagnostic screening tool for mitochondrial myopathy. ---------------- > hi groupies, just a quick question about exercise tolerance tests. > What are these tests called? Are there different kinds of them? Is > checking O2 levels, lactic acid and pyruvate part of them. I had an > abnormal ischemic forearm exercise test years ago (I think that is > what it was called) and the results are lost somewhere in my file. i > was thinking of asking my PCP to repeat these. Since i have basicly > no endurance I figure that's when my problems should show up. Do I > need to be referred to a specialist for them- ex. cardiologist, > pulmonologist - which specialty? Can my PCP order them? Is the forearm > test still done/ is there an exercise tolerance test when one actually > exercises and has the relavent measurements taken. Also, I had > pulmonary function tests done years ago also. They were slightly > abnormal. Would it be a good idea to heave these repeated, since I am > more symptomatic now? Any help appreciated, Celia Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 13, 2004 Report Share Posted September 13, 2004 Exercise tests can include simple things like repeatedly making a fist or climbing up and down a small flight of stairs. More sophisticated tests include maximal bicycle exercise testing that analyzes gas exchange and cardiac output or Doppler ultrasound measures of blood flow in exercising forearm. There is also strength testing on Cybex ergometer. In the US Haller MD is the expert who focuses on exercise testing in metabolic muscle disorders. In Canada, Mark Tarnopolsky MD PhD has an interest in exercise and most likely does exercise testing with his patients. Pasted below, diagnostic information on the forearm ischemic exercise test and other exercise tests for metabolic muscle disease. Barbara --------------------------- http://www.emedicine.com/neuro/topic672.htm Forearm ischemic exercise test: McArdle introduced this test in 1951. It is a useful screen to detect a possible enzymatic defect in the glycogenolytic and glycolysis pathways. In healthy subjects, lactate level should increase to 3-5 times the basal level in the first 2 samples after exercise and then decrease gradually to the baseline. Ammonia level also should increase after exercise. Ammonia level is useful not only as a monitor of sufficient exercise, but also as a test for myoadenylate deaminase deficiency (MAD deficiency). In glycogen storage diseases, such as McArdle disease, serum lactate levels do not increase after exercise (ie, flat lactate curve), while in lipid storage diseases, both lactate and ammonia levels increase in a normal fashion. In MAD deficiency, ammonia does not increase (ie, flat ammonia curve). On rare occasions, 2 enzyme defects are found in the same patient, such as myophosphorylase or phosphofructokinase defect along with myoadenylate deaminase defect. The latter usually is due to poor effort during exercise. --------------- Ann Neurol. 2003 Oct;54(4):539-42. A diagnostic cycle test for McArdle's disease. Vissing J, Haller RG. Department of Neurology and Copenhagen Muscle Research Center, National University Hospital, Rigshospitalet, Copenhagen, Denmark. vissing@... We investigated whether the second wind phenomenon (ie, a decrease in heart rate and perceived exertion during exercise) is pathognomonic for McArdle's disease. Twenty-four patients with McArdle's disease, 17 healthy subjects, and 25 patients with other inborn errors of muscle metabolism cycled a constant workload for 15 minutes. In McArdle's disease patients, heart rate consistently decreased by 35 +/- 3 beats per minute from the 7(th) to the 15(th) minute of exercise, whereas heart rate increased progressively with exercise in all 42 control subjects. The findings indicate that cycling at a moderate, constant workload provides a specific, sensitive, and simple diagnostic test for McArdle's disease ----------------------- Neurology. 2002 May 28;58(10):1533-8. A forearm exercise screening test for mitochondrial myopathy. Jensen TD, Kazemi-Esfarjani P, Skomorowska E, Vissing J. Copenhagen Muscle Research Center, Department of Neurology, National University Hospital, Rigshospitalet, Copenhagen, Denmark. BACKGROUND: The authors hypothesized that impaired oxygen extraction in mitochondrial myopathy (MM) results in a high oxygen saturation in venous effluent blood from working muscle and that this phenomenon can be used as a diagnostic tool for MM. METHODS: Twelve patients with MM, 10 patients with muscular dystrophy, and 12 healthy subjects were studied. All subjects performed intermittent static handgrip exercise (1/2 Hz) at 40% of maximal voluntary contraction (MVC) for 3 minutes. Cubital venous oxygen saturation and brachial artery flow were measured in the exercised arm. RESULTS: Exercise-induced venous oxygen desaturation was smaller in patients with MM (Delta - 7 +/- 5%) than in subjects with muscular dystrophy (Delta - 38 +/- 2%; p = 0.00001) and healthy subjects (Delta - 43 +/- 2%; p = 0.0000002). MVC and exercise blood flow were similar in patients with MM (18 +/- 3 kg; 436 +/- 65 mL/min) and patients with muscular dystrophy (15 +/- 3 kg; 460 +/- 85 mL/min), but were higher in healthy subjects (32 +/- 4 kg; 630 +/- 58 mL/min; p < 0.03). In seven patients with MM and seven patients with McArdle disease, studied with a slightly different protocol, exercise- induced oxygen desaturation was also impaired in MM (Delta - +/- 5%) compared with McArdle disease (Delta - 26 +/- 3%; p = 0.007). CONCLUSION: Oxygen desaturation in venous blood from exercising muscle is markedly lower in patients with mitochondrial myopathy than in subjects with other muscle diseases and healthy subjects, suggesting that a forearm exercise test can be a diagnostic screening tool for mitochondrial myopathy. ---------------- > hi groupies, just a quick question about exercise tolerance tests. > What are these tests called? Are there different kinds of them? Is > checking O2 levels, lactic acid and pyruvate part of them. I had an > abnormal ischemic forearm exercise test years ago (I think that is > what it was called) and the results are lost somewhere in my file. i > was thinking of asking my PCP to repeat these. Since i have basicly > no endurance I figure that's when my problems should show up. Do I > need to be referred to a specialist for them- ex. cardiologist, > pulmonologist - which specialty? Can my PCP order them? Is the forearm > test still done/ is there an exercise tolerance test when one actually > exercises and has the relavent measurements taken. Also, I had > pulmonary function tests done years ago also. They were slightly > abnormal. Would it be a good idea to heave these repeated, since I am > more symptomatic now? Any help appreciated, Celia Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 13, 2004 Report Share Posted September 13, 2004 Exercise tests can include simple things like repeatedly making a fist or climbing up and down a small flight of stairs. More sophisticated tests include maximal bicycle exercise testing that analyzes gas exchange and cardiac output or Doppler ultrasound measures of blood flow in exercising forearm. There is also strength testing on Cybex ergometer. In the US Haller MD is the expert who focuses on exercise testing in metabolic muscle disorders. In Canada, Mark Tarnopolsky MD PhD has an interest in exercise and most likely does exercise testing with his patients. Pasted below, diagnostic information on the forearm ischemic exercise test and other exercise tests for metabolic muscle disease. Barbara --------------------------- http://www.emedicine.com/neuro/topic672.htm Forearm ischemic exercise test: McArdle introduced this test in 1951. It is a useful screen to detect a possible enzymatic defect in the glycogenolytic and glycolysis pathways. In healthy subjects, lactate level should increase to 3-5 times the basal level in the first 2 samples after exercise and then decrease gradually to the baseline. Ammonia level also should increase after exercise. Ammonia level is useful not only as a monitor of sufficient exercise, but also as a test for myoadenylate deaminase deficiency (MAD deficiency). In glycogen storage diseases, such as McArdle disease, serum lactate levels do not increase after exercise (ie, flat lactate curve), while in lipid storage diseases, both lactate and ammonia levels increase in a normal fashion. In MAD deficiency, ammonia does not increase (ie, flat ammonia curve). On rare occasions, 2 enzyme defects are found in the same patient, such as myophosphorylase or phosphofructokinase defect along with myoadenylate deaminase defect. The latter usually is due to poor effort during exercise. --------------- Ann Neurol. 2003 Oct;54(4):539-42. A diagnostic cycle test for McArdle's disease. Vissing J, Haller RG. Department of Neurology and Copenhagen Muscle Research Center, National University Hospital, Rigshospitalet, Copenhagen, Denmark. vissing@... We investigated whether the second wind phenomenon (ie, a decrease in heart rate and perceived exertion during exercise) is pathognomonic for McArdle's disease. Twenty-four patients with McArdle's disease, 17 healthy subjects, and 25 patients with other inborn errors of muscle metabolism cycled a constant workload for 15 minutes. In McArdle's disease patients, heart rate consistently decreased by 35 +/- 3 beats per minute from the 7(th) to the 15(th) minute of exercise, whereas heart rate increased progressively with exercise in all 42 control subjects. The findings indicate that cycling at a moderate, constant workload provides a specific, sensitive, and simple diagnostic test for McArdle's disease ----------------------- Neurology. 2002 May 28;58(10):1533-8. A forearm exercise screening test for mitochondrial myopathy. Jensen TD, Kazemi-Esfarjani P, Skomorowska E, Vissing J. Copenhagen Muscle Research Center, Department of Neurology, National University Hospital, Rigshospitalet, Copenhagen, Denmark. BACKGROUND: The authors hypothesized that impaired oxygen extraction in mitochondrial myopathy (MM) results in a high oxygen saturation in venous effluent blood from working muscle and that this phenomenon can be used as a diagnostic tool for MM. METHODS: Twelve patients with MM, 10 patients with muscular dystrophy, and 12 healthy subjects were studied. All subjects performed intermittent static handgrip exercise (1/2 Hz) at 40% of maximal voluntary contraction (MVC) for 3 minutes. Cubital venous oxygen saturation and brachial artery flow were measured in the exercised arm. RESULTS: Exercise-induced venous oxygen desaturation was smaller in patients with MM (Delta - 7 +/- 5%) than in subjects with muscular dystrophy (Delta - 38 +/- 2%; p = 0.00001) and healthy subjects (Delta - 43 +/- 2%; p = 0.0000002). MVC and exercise blood flow were similar in patients with MM (18 +/- 3 kg; 436 +/- 65 mL/min) and patients with muscular dystrophy (15 +/- 3 kg; 460 +/- 85 mL/min), but were higher in healthy subjects (32 +/- 4 kg; 630 +/- 58 mL/min; p < 0.03). In seven patients with MM and seven patients with McArdle disease, studied with a slightly different protocol, exercise- induced oxygen desaturation was also impaired in MM (Delta - +/- 5%) compared with McArdle disease (Delta - 26 +/- 3%; p = 0.007). CONCLUSION: Oxygen desaturation in venous blood from exercising muscle is markedly lower in patients with mitochondrial myopathy than in subjects with other muscle diseases and healthy subjects, suggesting that a forearm exercise test can be a diagnostic screening tool for mitochondrial myopathy. ---------------- > hi groupies, just a quick question about exercise tolerance tests. > What are these tests called? Are there different kinds of them? Is > checking O2 levels, lactic acid and pyruvate part of them. I had an > abnormal ischemic forearm exercise test years ago (I think that is > what it was called) and the results are lost somewhere in my file. i > was thinking of asking my PCP to repeat these. Since i have basicly > no endurance I figure that's when my problems should show up. Do I > need to be referred to a specialist for them- ex. cardiologist, > pulmonologist - which specialty? Can my PCP order them? Is the forearm > test still done/ is there an exercise tolerance test when one actually > exercises and has the relavent measurements taken. Also, I had > pulmonary function tests done years ago also. They were slightly > abnormal. Would it be a good idea to heave these repeated, since I am > more symptomatic now? Any help appreciated, Celia Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 14, 2004 Report Share Posted September 14, 2004 -dear Barbara, Thanks for the info. Is MAD a mito disease, because the abnormality I had on the ischemic arm test was my amonia level did not rise? Celia- - In , " wheatchild2 " wrote: > Exercise tests can include simple things like repeatedly making a > fist or climbing up and down a small flight of stairs. More > sophisticated tests include maximal bicycle exercise testing that > analyzes gas exchange and cardiac output or Doppler ultrasound > measures of blood flow in exercising forearm. There is also strength > testing on Cybex ergometer. > > In the US Haller MD is the expert who focuses on exercise > testing in metabolic muscle disorders. In Canada, Mark Tarnopolsky > MD PhD has an interest in exercise and most likely does exercise > testing with his patients. > > Pasted below, diagnostic information on the forearm ischemic > exercise test and other exercise tests for metabolic muscle disease. > > Barbara > > --------------------------- > > http://www.emedicine.com/neuro/topic672.htm > > Forearm ischemic exercise test: McArdle introduced this test in > 1951. It is a useful screen to detect a possible enzymatic defect in > the glycogenolytic and glycolysis pathways. > > In healthy subjects, lactate level should increase to 3-5 times the > basal level in the first 2 samples after exercise and then decrease > gradually to the baseline. > > Ammonia level also should increase after exercise. Ammonia level is > useful not only as a monitor of sufficient exercise, but also as a > test for myoadenylate deaminase deficiency (MAD deficiency). > > In glycogen storage diseases, such as McArdle disease, serum lactate > levels do not increase after exercise (ie, flat lactate curve), > while in lipid storage diseases, both lactate and ammonia levels > increase in a normal fashion. > > In MAD deficiency, ammonia does not increase (ie, flat ammonia > curve). > > On rare occasions, 2 enzyme defects are found in the same patient, > such as myophosphorylase or phosphofructokinase defect along with > myoadenylate deaminase defect. The latter usually is due to poor > effort during exercise. > > > > --------------- > > Ann Neurol. 2003 Oct;54(4):539-42. > A diagnostic cycle test for McArdle's disease. > > Vissing J, Haller RG. > > Department of Neurology and Copenhagen Muscle Research Center, > National University Hospital, Rigshospitalet, Copenhagen, Denmark. > vissing@r... > > We investigated whether the second wind phenomenon (ie, a decrease > in heart rate and perceived exertion during exercise) is > pathognomonic for McArdle's disease. Twenty-four patients with > McArdle's disease, 17 healthy subjects, and 25 patients with other > inborn errors of muscle metabolism cycled a constant workload for 15 > minutes. In McArdle's disease patients, heart rate consistently > decreased by 35 +/- 3 beats per minute from the 7(th) to the 15(th) > minute of exercise, whereas heart rate increased progressively with > exercise in all 42 control subjects. The findings indicate that > cycling at a moderate, constant workload provides a specific, > sensitive, and simple diagnostic test for McArdle's disease > > ----------------------- > > Neurology. 2002 May 28;58(10):1533-8. > A forearm exercise screening test for mitochondrial myopathy. > > Jensen TD, Kazemi-Esfarjani P, Skomorowska E, Vissing J. > > Copenhagen Muscle Research Center, Department of Neurology, National > University Hospital, Rigshospitalet, Copenhagen, Denmark. > > BACKGROUND: The authors hypothesized that impaired oxygen extraction > in mitochondrial myopathy (MM) results in a high oxygen saturation > in venous effluent blood from working muscle and that this > phenomenon can be used as a diagnostic tool for MM. METHODS: Twelve > patients with MM, 10 patients with muscular dystrophy, and 12 > healthy subjects were studied. All subjects performed intermittent > static handgrip exercise (1/2 Hz) at 40% of maximal voluntary > contraction (MVC) for 3 minutes. Cubital venous oxygen saturation > and brachial artery flow were measured in the exercised arm. > RESULTS: Exercise-induced venous oxygen desaturation was smaller in > patients with MM (Delta - 7 +/- 5%) than in subjects with muscular > dystrophy (Delta - 38 +/- 2%; p = 0.00001) and healthy subjects > (Delta - 43 +/- 2%; p = 0.0000002). MVC and exercise blood flow were > similar in patients with MM (18 +/- 3 kg; 436 +/- 65 mL/min) and > patients with muscular dystrophy (15 +/- 3 kg; 460 +/- 85 mL/min), > but were higher in healthy subjects (32 +/- 4 kg; 630 +/- 58 mL/min; > p < 0.03). In seven patients with MM and seven patients with McArdle > disease, studied with a slightly different protocol, exercise- > induced oxygen desaturation was also impaired in MM (Delta - +/- 5%) > compared with McArdle disease (Delta - 26 +/- 3%; p = 0.007). > CONCLUSION: Oxygen desaturation in venous blood from exercising > muscle is markedly lower in patients with mitochondrial myopathy > than in subjects with other muscle diseases and healthy subjects, > suggesting that a forearm exercise test can be a diagnostic > screening tool for mitochondrial myopathy. > > > ---------------- > > > > > > hi groupies, just a quick question about exercise tolerance tests. > > What are these tests called? Are there different kinds of them? Is > > checking O2 levels, lactic acid and pyruvate part of them. I had an > > abnormal ischemic forearm exercise test years ago (I think that is > > what it was called) and the results are lost somewhere in my file. > i > > was thinking of asking my PCP to repeat these. Since i have > basicly > > no endurance I figure that's when my problems should show up. Do I > > need to be referred to a specialist for them- ex. cardiologist, > > pulmonologist - which specialty? Can my PCP order them? Is the > forearm > > test still done/ is there an exercise tolerance test when one > actually > > exercises and has the relavent measurements taken. Also, I had > > pulmonary function tests done years ago also. They were slightly > > abnormal. Would it be a good idea to heave these repeated, since I > am > > more symptomatic now? Any help appreciated, Celia Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 14, 2004 Report Share Posted September 14, 2004 Celia, Myoadenylate deaminase deficiency is a metabolic disorder but it not a mito disorder. MAD is the most common metabolic muscle disease. Paragraph from Dr. Vladutiu: " MAD occurs in every 1 in 50 individuals in the general population and every 1 in 5 individuals is a carrier for one mutation in the MAD gene. The symptoms are similar to those of McArdle's disease and CPT II deficiency, however, not everyone with MAD is symptomatic making it one of the most puzzling disorders of exercise intolerance. " I don't know of any other metabolic muscle disease that would produce a flat ammonia curve, though there may be one. Generally that finding is considered to mean a very likely diagnosis of myoadenolate deaminase deficiency. MAD can be confirmed by mutation screening. I know at least two patients who have had diagnosis confirmed this way. I would certainly ask your doctor about mutation screening. That can be done with blood samples and is simple for the patient. Here is the OMIM entry for MAD and related disorders. http://www4.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102770 Barbara > > > hi groupies, just a quick question about exercise tolerance tests. > > > What are these tests called? Are there different kinds of them? Is > > > checking O2 levels, lactic acid and pyruvate part of them. I had an > > > abnormal ischemic forearm exercise test years ago (I think that is > > > what it was called) and the results are lost somewhere in my file. > > i > > > was thinking of asking my PCP to repeat these. Since i have > > basicly > > > no endurance I figure that's when my problems should show up. Do I > > > need to be referred to a specialist for them- ex. cardiologist, > > > pulmonologist - which specialty? Can my PCP order them? Is the > > forearm > > > test still done/ is there an exercise tolerance test when one > > actually > > > exercises and has the relavent measurements taken. Also, I had > > > pulmonary function tests done years ago also. They were slightly > > > abnormal. Would it be a good idea to heave these repeated, since I > > am > > > more symptomatic now? Any help appreciated, Celia Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 14, 2004 Report Share Posted September 14, 2004 -dear Barbara, thanks again for the info. i have been reading about it this afternoon. I have seen several people mention this before on the board- is it possibly related to mitochondrial disease. Would it explain all my other problems (gut dismotility, cardiac arythmia, hypothyroid amoung others) can't beleive after all this time this is an explanation for my musclre weakness/endurance problems, Celia -- In , " wheatchild2 " wrote: > Celia, > > Myoadenylate deaminase deficiency is a metabolic disorder but it not > a mito disorder. MAD is the most common metabolic muscle disease. > Paragraph from Dr. Vladutiu: " MAD occurs in every 1 in 50 > individuals in the general population and every 1 in 5 individuals > is a carrier for one mutation in the MAD gene. The symptoms are > similar to those of McArdle's disease and CPT II deficiency, > however, not everyone with MAD is symptomatic making it one of the > most puzzling disorders of exercise intolerance. " > > I don't know of any other metabolic muscle disease that would > produce a flat ammonia curve, though there may be one. Generally > that finding is considered to mean a very likely diagnosis of > myoadenolate deaminase deficiency. MAD can be confirmed by mutation > screening. I know at least two patients who have had diagnosis > confirmed this way. > > I would certainly ask your doctor about mutation screening. That can > be done with blood samples and is simple for the patient. > > Here is the OMIM entry for MAD and related disorders. > http://www4.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=102770 > > Barbara > > > > > > hi groupies, just a quick question about exercise tolerance > tests. > > > > What are these tests called? Are there different kinds of > them? Is > > > > checking O2 levels, lactic acid and pyruvate part of them. I > had an > > > > abnormal ischemic forearm exercise test years ago (I think > that is > > > > what it was called) and the results are lost somewhere in my > file. > > > i > > > > was thinking of asking my PCP to repeat these. Since i have > > > basicly > > > > no endurance I figure that's when my problems should show up. > Do I > > > > need to be referred to a specialist for them- ex. cardiologist, > > > > pulmonologist - which specialty? Can my PCP order them? Is the > > > forearm > > > > test still done/ is there an exercise tolerance test when one > > > actually > > > > exercises and has the relavent measurements taken. Also, I had > > > > pulmonary function tests done years ago also. They were > slightly > > > > abnormal. Would it be a good idea to heave these repeated, > since I > > > am > > > > more symptomatic now? Any help appreciated, Celia Quote Link to comment Share on other sites More sharing options...
Guest guest Posted September 14, 2004 Report Share Posted September 14, 2004 Celia, I do know of one case of MAD and CPT II deficiency in a child but one disease did not cause the other. They were just two co-existing primary disorders. Because MAD is fairly common, it is possible that it could occur along with other conditions. The MAD patients I know did not mention the other symptoms you have, but one had severe bone problems and some other symptoms that were probably due to another cause. But he was satisfied with the MAD diagnosis and did not search further. Sorry, I can't help more, but I haven't read enough of the MAD literature to really answer your question. Take care, Barbara > > > > > hi groupies, just a quick question about exercise tolerance > > tests. > > > > > What are these tests called? Are there different kinds of > > them? Is > > > > > checking O2 levels, lactic acid and pyruvate part of them. I > > had an > > > > > abnormal ischemic forearm exercise test years ago (I think > > that is > > > > > what it was called) and the results are lost somewhere in my > > file. > > > > i > > > > > was thinking of asking my PCP to repeat these. Since i have > > > > basicly > > > > > no endurance I figure that's when my problems should show up. > > Do I > > > > > need to be referred to a specialist for them- ex. cardiologist, > > > > > pulmonologist - which specialty? Can my PCP order them? Is the > > > > forearm > > > > > test still done/ is there an exercise tolerance test when one > > > > actually > > > > > exercises and has the relavent measurements taken. Also, I had > > > > > pulmonary function tests done years ago also. They were > > slightly > > > > > abnormal. Would it be a good idea to heave these repeated, > > since I > > > > am > > > > > more symptomatic now? Any help appreciated, Celia Quote Link to comment Share on other sites More sharing options...
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