Guest guest Posted February 6, 2006 Report Share Posted February 6, 2006 Hi Pamela, I am not really sure of the % but it seems high. I also wonder if those that have been diagnosed with MELAS were diagnosed by bloodwork, muscle biopsy or both. And which ones were diagnosed with Mito through a muscle biopsy and also a MELAS Phenotype by their Mito doctors. I have been diagnosed with Mitochondrial Encephalomyopathy (muscle biopsy in 1995) but they also diagnosed me as having a " MELAS Phenotype " because my symptoms match MELAS but no known genetic defect. I am having the blood work done to check for the MELAS mutations. There are only 2 maybe 3(does anyone know if there are 3 or is it still 2?) known mutations for MELAS. Ann-Marie lots of melas ? it seems as though an awful lot of people (adults with mito) at least from this list have melas ! can anyone hazard a guess as to % ? ----- Original Message ----- Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 6, 2006 Report Share Posted February 6, 2006 Pamela I have no idea as to percentage. MELAS is just a presentation of a group of symptoms for many. There are a few known genetic defects that can be checked for in the blood or muscle, but others have similar symptoms and have been told they have MELAS. laurie > it seems as though an awful lot of people (adults with mito) at least from > this list have melas ! can anyone hazard a guess as to % ? > ----- Original Message ----- > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 7, 2006 Report Share Posted February 7, 2006 I (am 43) and my 13 year old son and 15 yr old nephew were diagnosed by blood test. We strongly suspect my mother who died at age 49 in 1988 from a seizure had MELAS also. My sister first had a blood test in April 1996 after going into a 4 day coma after a seizure. The doc that some people in her family doctors office suggested she see this doctor. He suspected melas but had the blood work sent to California from Milwaukee Wisconsin to test for the mitochondrial workup. Meanwhile in June she had 10 hrs of seizures that she had to be put into a medical coma while she was on the anti seizure meds. That is when they did the muscle biopsy. Do not know if it was fresh or frozen but would say it had to be frozen because it was done in Milwaukee (did not know about such questions and even MELAS)) back then. Muscle biopsy and blood tests came back postive for MELAS. Thus my son and I were able to just have the blood test for the know mutation. Janet Sample lots of melas ? it seems as though an awful lot of people (adults with mito) at least from this list have melas ! can anyone hazard a guess as to % ? ----- Original Message ----- Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 7, 2006 Report Share Posted February 7, 2006 At http://www.athenadiagnostics.com/site/product_search/test_description_template.a\ sp?id=209 there's a MELAS panel, here's excerpts below. Seems Athena, at least, has six defects it looks for. These six MELAS defects, plus four MERRF defects, and one NARP defect, are in their MITO evaluation. Steve D. MELAS mtDNA Evaluation- #517 Type of Disorder: Neuromuscular Disorders Typical Presentation: Features may include lactic acidosis, ophthalmoplegia, seizures, stroke-like episodes and ragged red fibers Test Includes: MELAS 3243, MELAS 3271, MELAS 3252, MELAS 3256, MELAS 3291, MELAS 13513 Utility: Detects six mtDNA point mutations linked to MELAS syndrome Methodology: Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP) Reference Value: No mutation detected CPT Code(s): 83891(1), 83892(6), 83894(6), 83898(6), 83912(1) lots of melas ? it seems as though an awful lot of people (adults with mito) at least from this list have melas ! can anyone hazard a guess as to % ? ----- Original Message ----- Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 8, 2006 Report Share Posted February 8, 2006 Don't know how helpful the following long quote is but I find it interesting. It's an excerpt from an article by Dr. Naviaux of the Mitochondrial and Metabolic Disease Center in San Diego. It was in the journal " Mitochondrial Cytopathies " in 2000. Although he's not disputing that the MELAS mutation indicates a mitochondrial disease, he is pointing to some possible shortcomings in how doctors and patients have understood MELAS and other phenotypes and known mutations. He wrote: " Even a single point mutation in mitochondrial DNA can produce many different diseases. Perhaps the best studied examle of this is the A3243G mutation first linked to the disease called MELAS....In our experience at the Mitochondrial and Metabolic Disease Center (MMDC), adults bearing this mutation in mitochondrial DNA frequently presented with diabetes years before onset of brain disease and hearing loss for decades before the onset of recurrent stroke-like episodes and diabetes led to the correct diagnosis. Other patients had early onset dementia in their 30s that was undiagnosed until the occurrence of a seizure and stroke-like episode. In still other patients, the single manifestation of this mutation was an unexplained cardiomyopathy and mildly elevated lactate. Nearly a third of the patients who carry the A32343G mutation had near normal blood lactic acid levels. In these patients, only the cerebrospinal fluid lactic acid was elevated. In 10-15%, lactic acid was elevated neither in the blood nor spinal fluid. The message is that not all patients with the A32343G mutation have MELAS. Similarly, most adult patients who carry the T8993G mutation, often referred to as the NARP mutation, do not have the 'neuropathy or neurogenic muscular weakness, ataxia or retinitis pigmentosa', for which the acronym was coined. These factors illustrate that the name of a mitochondrial disease can be misleading. Physicians and patients who rely on an acronym like MELAS or NARP to guide them in making a diagnosis will be wrong more often than not. " Cheers, Shayna > > I (am 43) and my 13 year old son and 15 yr old nephew were diagnosed by blood test. We strongly suspect my mother who died at age 49 in 1988 from a seizure had MELAS also. > > My sister first had a blood test in April 1996 after going into a 4 day coma after a seizure. The doc that some people in her family doctors office suggested she see this doctor. He suspected melas but had the blood work sent to California from Milwaukee Wisconsin to test for the mitochondrial workup. Meanwhile in June she had 10 hrs of seizures that she had to be put into a medical coma while she was on the anti seizure meds. That is when they did the muscle biopsy. Do not know if it was fresh or frozen but would say it had to be frozen because it was done in Milwaukee (did not know about such questions and even MELAS)) back then. > > Muscle biopsy and blood tests came back postive for MELAS. Thus my son and I were able to just have the blood test for the know mutation. > > Janet Sample > lots of melas ? > > > it seems as though an awful lot of people (adults with mito) at least from this list have melas ! can anyone hazard a guess as to % ? > ----- Original Message ----- > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 8, 2006 Report Share Posted February 8, 2006 Shayna Thanks for sharing this. This was what I was trying to say, but couldn't get it to make sense, even to me. :-) This explains it much better. This is the reason that I was told to use Complex I and III defect, instead of an acronym (if we could find one that fit). Had they found the genetic defect, then I would also use that. laurie > Don't know how helpful the following long quote is but I find it > interesting. It's an excerpt from an article by Dr. Naviaux of > the Mitochondrial and Metabolic Disease Center in San Diego. It was in > the journal " Mitochondrial Cytopathies " in 2000. Although he's not > disputing that the MELAS mutation indicates a mitochondrial disease, > he is pointing to some possible shortcomings in how doctors and > patients have understood MELAS and other phenotypes and known > mutations. He wrote: > > " Even a single point mutation in mitochondrial DNA can produce many > different diseases. Perhaps the best studied examle of this is the > A3243G mutation first linked to the disease called MELAS....In our > experience at the Mitochondrial and Metabolic Disease Center (MMDC), > adults bearing this mutation in mitochondrial DNA frequently presented > with diabetes years before onset of brain disease and hearing loss for > decades before the onset of recurrent stroke-like episodes and > diabetes led to the correct diagnosis. Other patients had early onset > dementia in their 30s that was undiagnosed until the occurrence of a > seizure and stroke-like episode. In still other patients, the single > manifestation of this mutation was an unexplained cardiomyopathy and > mildly elevated lactate. Nearly a third of the patients who carry the > A32343G mutation had near normal blood lactic acid levels. In these > patients, only the cerebrospinal fluid lactic acid was elevated. In > 10-15%, lactic acid was elevated neither in the blood nor spinal > fluid. The message is that not all patients with the A32343G mutation > have MELAS. Similarly, most adult patients who carry the T8993G > mutation, often referred to as the NARP mutation, do not have the > 'neuropathy or neurogenic muscular weakness, ataxia or retinitis > pigmentosa', for which the acronym was coined. These factors > illustrate that the name of a mitochondrial disease can be misleading. > Physicians and patients who rely on an acronym like MELAS or NARP to > guide them in making a diagnosis will be wrong more often than not. " > > Cheers, > Shayna > > > > > > > I (am 43) and my 13 year old son and 15 yr old nephew were diagnosed > by blood test. We strongly suspect my mother who died at age 49 in > 1988 from a seizure had MELAS also. > > > > My sister first had a blood test in April 1996 after going into a 4 > day coma after a seizure. The doc that some people in her family > doctors office suggested she see this doctor. He suspected melas but > had the blood work sent to California from Milwaukee Wisconsin to test > for the mitochondrial workup. Meanwhile in June she had 10 hrs of > seizures that she had to be put into a medical coma while she was on > the anti seizure meds. That is when they did the muscle biopsy. Do > not know if it was fresh or frozen but would say it had to be frozen > because it was done in Milwaukee (did not know about such questions > and even MELAS)) back then. > > > > Muscle biopsy and blood tests came back postive for MELAS. Thus my > son and I were able to just have the blood test for the know mutation. > > > > Janet Sample > > lots of melas ? > > > > > > it seems as though an awful lot of people (adults with mito) at > least from this list have melas ! can anyone hazard a guess as to % ? > > ----- Original Message ----- > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 8, 2006 Report Share Posted February 8, 2006 Many have had problems with Athena lab results. Just a heads up. Steve wrote: >At http://www.athenadiagnostics.com/site/product_search/test_description_template.a\ sp?id=209 >there's a MELAS panel, here's excerpts below. > >Seems Athena, at least, has six defects it looks for. These six MELAS defects, plus four MERRF defects, and one NARP defect, are in their MITO evaluation. > >Steve D. > > MELAS mtDNA Evaluation- #517 > > > Type of Disorder: Neuromuscular Disorders > > Typical Presentation: Features may include lactic acidosis, ophthalmoplegia, seizures, stroke-like episodes and ragged red fibers > > > Test Includes: MELAS 3243, MELAS 3271, MELAS 3252, MELAS 3256, MELAS 3291, MELAS 13513 > > > Utility: Detects six mtDNA point mutations linked to MELAS syndrome > > Methodology: Polymerase Chain Reaction (PCR) and Restriction Fragment Length Polymorphism (RFLP) > > Reference Value: No mutation detected > > CPT Code(s): 83891(1), 83892(6), 83894(6), 83898(6), 83912(1) > > lots of melas ? > > > it seems as though an awful lot of people (adults with mito) at least from this list have melas ! can anyone hazard a guess as to % ? > ----- Original Message ----- > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 9, 2006 Report Share Posted February 9, 2006 ...........what are the symptoms of MELAS? my name is janice, i live in oakland, ca. i use to post on this group yrs. ago, but stopped. i'm back. i was dx with mitochondrial myopathy by a muscle biopsy, but was unable to have a DNA test because they lost my muscle tissue. i'm working on doing another biopsy. as far as mito specialist in ca go i went to san diego at ucsd and saw dr. r. hass. he is a pedi neurologist and sees adults. (they were not the ones who lost my tissue)............janice Laurie Fitzgerald wrote: >Pamela > >I have no idea as to percentage. MELAS is just a presentation of a >group of symptoms for many. There are a few known genetic defects that >can be checked for in the blood or muscle, but others have similar >symptoms and have been told they have MELAS. > >laurie > > > > it seems as though an awful lot of people (adults with mito) at least from > > this list have melas ! can anyone hazard a guess as to % ? > > ----- Original Message ----- > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 9, 2006 Report Share Posted February 9, 2006 Welcome back Janice! laurie > ..........what are the symptoms of MELAS? my name is janice, i live in > oakland, ca. i use to post on this group yrs. ago, but stopped. i'm > back. i was dx with mitochondrial myopathy by a muscle biopsy, but was > unable to have a DNA test because they lost my muscle tissue. i'm > working on doing another biopsy. as far as mito specialist in ca go i > went to san diego at ucsd and saw dr. r. hass. he is a pedi neurologist > and sees adults. (they were not the ones who lost my > tissue)............janice > > > Laurie Fitzgerald wrote: > > >Pamela > > > >I have no idea as to percentage. MELAS is just a presentation of a > >group of symptoms for many. There are a few known genetic defects that > >can be checked for in the blood or muscle, but others have similar > >symptoms and have been told they have MELAS. > > > >laurie > > > > > > > it seems as though an awful lot of people (adults with mito) at least > from > > > this list have melas ! can anyone hazard a guess as to % ? > > > ----- Original Message ----- > > > > > > Quote Link to comment Share on other sites More sharing options...
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