Guest guest Posted October 24, 2000 Report Share Posted October 24, 2000 Pam, MRI's often cost around $1500 here. I got a question off list today from someone who wanted to know if he could buy Sinemet CR 50/200 from Canada while living in the USA. He had heard medicines were much cheaper there. I told him that I thought you had to live there to get the medicine cheaper. Am I correct? That is why you have a higher tax rate than us. ) But if you add our health insurance, Medicare, Social Security, State taxes, etc, you probably pay no more than us. ) I don't know why you are wrong, I'm never wrong ) But then I'm just one of those nasty old men ) Take care, Bill --------------------------------------------------------------------------------\ ------------ Pam Bower wrote: > It did mention in this article near the bottom that the battery of testing for > hereditary ataxias was equivalent to the cost of an MRI... I interpret that as meaning > all of the tests combined are equal to the cost of an MRI... but I've been wrong before! > > Hugs, > Pam > > Pam Bower wrote: > > > I'll just add that there are about a dozen different hereditary OPCAs and genetic > > tests are only available for some of them. The term for hereditary OPCA is now > > known as Spinocerebellar Ataxia or SCA. Each type is given a number... SCA1, SCA2 > > etc... they are now up to SCA14. If you have OPCA or cerebellar atrophy or > > cerebellar degeneration or ataxia then finding out about your family history going > > back at least two generations is very important. Many doctors will screen for the > > most common types of SCA as part of the diagnostic plan. If they haven't screened > > you for the most common ones then you might want to ask for them. > > > > The below excerpt is from " Hereditary Ataxia Overview " > > > > Author: D Bird, MD; University of Washington School of Medicine > > Last update: 25 July 2000 > > Last revision: 25 September 2000 > > Initial posting: 28 Sept 1998 > > > > See: http://www.geneclinics.org/profiles/ataxias/details.html > > > > DNA-based testing. > > > > DNA testing that is accurate and specific is clinically available for 6 types of > > autosomal > > dominant hereditary ataxia (SCA1, SCA2, SCA3, SCA6, SCA7, and DRPLA) and for one > > type of autosomal > > recessive hereditary ataxia [Friedreich ataxia (FRDA)]. About 50% of the dominant > > hereditary ataxias can > > be identified with DNA testing for these six disorders; all have trinucleotide > > repeat expansions in the > > pertinent genes. The exact range for the abnormal CAG repeat expansion has not been > > fully established for > > many of these disorders. Expansions falling in an " intermediate " range require a > > review of the pertinent > > literature and consultation with a specialist. Also, penetrance of clinical > > phenotype varies with both CAG > > expansion size and patient age and differs with each type of ataxia. DNA testing for > > SCA8 is clinically > > available but the interpretation is complex because only a few families have been > > reported, and penetrance > > and gender effects have not been completely resolved. > > > > Testing strategy when the family history suggests autosomal dominant > > inheritance: Because > > of the broad clinical overlap, most laboratories that test for the hereditary > > ataxias have a battery of > > tests including testing for SCA1, SCA2, SCA3, SCA6 and SCA7. Many laboratories > > offer them as two > > groups in stepwise fashion based on population frequency, testing for SCA1, > > SCA2, and SCA3 first as > > they are more common and testing for SCA6 and SCA7 second as they are less > > common. This > > approach to testing is reasonable unless the clinician has a strong clinical > > indication of a specific > > diagnosis based on the patient's examination (e.g., the presence of retinopathy > > in a patient, which > > suggests SCA7) or if family history is positive for a known type; in these > > instances, testing can be > > performed for a single disease. > > > > Family histories with affected sibs only: Family histories in which only > > affected sibs occur suggest > > autosomal recessive inheritance. The differential diagnosis in this situation > > includes a wide variety of > > recessive disorders, but of particular importance, because of their frequency > > and/or treatment > > potential, Friedreich ataxia, ataxia-telangiectasia, ataxia with vitamin E > > deficiency, and metabolic or lipid > > storage disorders - including Refsum's disease and Tay-Sachs (GM2 > > gangliosidosis) - should be > > considered. > > > > Testing strategy when the family history is negative: Testing the patient with > > ataxia who has no > > family history of other individuals with similar findings presents a special > > problem. First, acquired > > non-genetic causes of ataxia should be considered. If no acquired cause is > > identified, then the > > probability is 2-5% that a patient with sporadically occurring ataxia has SCA1, > > SCA2, SCA3, SCA6, > > SCA7, or Friedreich ataxia (FRDA) [Moseley et al 1998]. At this point it is > > appropriate to consider > > testing for FRDA, even in patients with an atypical phenotype. Prior to the > > availability of molecular > > genetic testing, the diagnosis of FRDA was only considered in patients who met > > strict diagnostic > > criteria that included onset of symptoms less than 20 years of age and absence > > of deep tendon > > reflexes; however, based on the results of DNA-based testing, the phenotypic > > spectrum for FRDA has > > been broadened to include older age of onset (>20 years) and preservation of > > deep tendon reflexes > > [Durr et al 1996]. > > > > The cost of the battery of ataxia tests is equivalent to that of an MRI. Positive > > results from the molecular > > genetic testing are more specific than an MRI when the diagnosis is hereditary > > ataxia. Although the > > probability of a positive result from a molecular genetic test is low in a patient > > with sporadic ataxia, this > > approach is usually justified to establish a specific diagnosis for the patient's > > medical evaluation and for > > genetic counseling. > > > > See also: > > Spinocerebellar Ataxia: Making an Informed Choice about Genetic Testing > > (Acrobat reader required) > > Web: http://depts.washington.edu/neurogen/AtaxiaBrochure99.pdf > > > > Contact this support information for more information on Hereditary OPCA: > > > > National Ataxia Foundation > > 2600 Fernbrook Lane, Suite 119 > > Minneapolis, MN 55447 > > Phone: > > Fax: > > E-mail: naf@... > > Web: www.ataxia.org > > > > There are also ataxia organizations in other countries, just ask me if you need more > > information. > > > > Regards, > > Pam > > > > Werre wrote: > > > > > Kerri, > > > > > > By definition, none of the MSA types are hereditary. Remember though, that > > > MSA-C or sporatic OPCA is much the same as hereditary OPCA and that is passed on > > > from generation to generation. Hereditary OPCA is identifiable through a > > > genetic test. > > > > > > Take care, Bill and Charlotte > > > > > > -------------------------------------------------------------- > > > > > > Kerri Francisco wrote: > > > > > > > Hi all > > > > > > > > I have a query about the different types of MSA. Are any of these > > > > hereditary? > > > > > > > > Regards & Hugs > > > > > > > > Kerri from Aussie Land > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 24, 2000 Report Share Posted October 24, 2000 Hmmm.. I'm not sure. I know people who've crossed the border to get over the counter medications, I don't know if they could come over and fill a prescription or not. You're the nastiest old man I know! LOL! xoxox Re: Back to Pam > Pam, > > MRI's often cost around $1500 here. > > I got a question off list today from someone who wanted to know if he could buy Sinemet CR > 50/200 from Canada while living in the USA. He had heard medicines were much cheaper > there. I told him that I thought you had to live there to get the medicine cheaper. Am I > correct? > > That is why you have a higher tax rate than us. ) But if you add our health insurance, > Medicare, Social Security, State taxes, etc, you probably pay no more than us. > > ) I don't know why you are wrong, I'm never wrong ) But then I'm just one of those > nasty old men ) > > Take care, Bill > > -------------------------------------------------------------------------- ------------------ > > Pam Bower wrote: > > > It did mention in this article near the bottom that the battery of testing for > > hereditary ataxias was equivalent to the cost of an MRI... I interpret that as meaning > > all of the tests combined are equal to the cost of an MRI... but I've been wrong before! > > > > Hugs, > > Pam > > > > Pam Bower wrote: > > > > > I'll just add that there are about a dozen different hereditary OPCAs and genetic > > > tests are only available for some of them. The term for hereditary OPCA is now > > > known as Spinocerebellar Ataxia or SCA. Each type is given a number... SCA1, SCA2 > > > etc... they are now up to SCA14. If you have OPCA or cerebellar atrophy or > > > cerebellar degeneration or ataxia then finding out about your family history going > > > back at least two generations is very important. Many doctors will screen for the > > > most common types of SCA as part of the diagnostic plan. If they haven't screened > > > you for the most common ones then you might want to ask for them. > > > > > > The below excerpt is from " Hereditary Ataxia Overview " > > > > > > Author: D Bird, MD; University of Washington School of Medicine > > > Last update: 25 July 2000 > > > Last revision: 25 September 2000 > > > Initial posting: 28 Sept 1998 > > > > > > See: http://www.geneclinics.org/profiles/ataxias/details.html > > > > > > DNA-based testing. > > > > > > DNA testing that is accurate and specific is clinically available for 6 types of > > > autosomal > > > dominant hereditary ataxia (SCA1, SCA2, SCA3, SCA6, SCA7, and DRPLA) and for one > > > type of autosomal > > > recessive hereditary ataxia [Friedreich ataxia (FRDA)]. About 50% of the dominant > > > hereditary ataxias can > > > be identified with DNA testing for these six disorders; all have trinucleotide > > > repeat expansions in the > > > pertinent genes. The exact range for the abnormal CAG repeat expansion has not been > > > fully established for > > > many of these disorders. Expansions falling in an " intermediate " range require a > > > review of the pertinent > > > literature and consultation with a specialist. Also, penetrance of clinical > > > phenotype varies with both CAG > > > expansion size and patient age and differs with each type of ataxia. DNA testing for > > > SCA8 is clinically > > > available but the interpretation is complex because only a few families have been > > > reported, and penetrance > > > and gender effects have not been completely resolved. > > > > > > Testing strategy when the family history suggests autosomal dominant > > > inheritance: Because > > > of the broad clinical overlap, most laboratories that test for the hereditary > > > ataxias have a battery of > > > tests including testing for SCA1, SCA2, SCA3, SCA6 and SCA7. Many laboratories > > > offer them as two > > > groups in stepwise fashion based on population frequency, testing for SCA1, > > > SCA2, and SCA3 first as > > > they are more common and testing for SCA6 and SCA7 second as they are less > > > common. This > > > approach to testing is reasonable unless the clinician has a strong clinical > > > indication of a specific > > > diagnosis based on the patient's examination (e.g., the presence of retinopathy > > > in a patient, which > > > suggests SCA7) or if family history is positive for a known type; in these > > > instances, testing can be > > > performed for a single disease. > > > > > > Family histories with affected sibs only: Family histories in which only > > > affected sibs occur suggest > > > autosomal recessive inheritance. The differential diagnosis in this situation > > > includes a wide variety of > > > recessive disorders, but of particular importance, because of their frequency > > > and/or treatment > > > potential, Friedreich ataxia, ataxia-telangiectasia, ataxia with vitamin E > > > deficiency, and metabolic or lipid > > > storage disorders - including Refsum's disease and Tay-Sachs (GM2 > > > gangliosidosis) - should be > > > considered. > > > > > > Testing strategy when the family history is negative: Testing the patient with > > > ataxia who has no > > > family history of other individuals with similar findings presents a special > > > problem. First, acquired > > > non-genetic causes of ataxia should be considered. If no acquired cause is > > > identified, then the > > > probability is 2-5% that a patient with sporadically occurring ataxia has SCA1, > > > SCA2, SCA3, SCA6, > > > SCA7, or Friedreich ataxia (FRDA) [Moseley et al 1998]. At this point it is > > > appropriate to consider > > > testing for FRDA, even in patients with an atypical phenotype. Prior to the > > > availability of molecular > > > genetic testing, the diagnosis of FRDA was only considered in patients who met > > > strict diagnostic > > > criteria that included onset of symptoms less than 20 years of age and absence > > > of deep tendon > > > reflexes; however, based on the results of DNA-based testing, the phenotypic > > > spectrum for FRDA has > > > been broadened to include older age of onset (>20 years) and preservation of > > > deep tendon reflexes > > > [Durr et al 1996]. > > > > > > The cost of the battery of ataxia tests is equivalent to that of an MRI. Positive > > > results from the molecular > > > genetic testing are more specific than an MRI when the diagnosis is hereditary > > > ataxia. Although the > > > probability of a positive result from a molecular genetic test is low in a patient > > > with sporadic ataxia, this > > > approach is usually justified to establish a specific diagnosis for the patient's > > > medical evaluation and for > > > genetic counseling. > > > > > > See also: > > > Spinocerebellar Ataxia: Making an Informed Choice about Genetic Testing > > > (Acrobat reader required) > > > Web: http://depts.washington.edu/neurogen/AtaxiaBrochure99.pdf > > > > > > Contact this support information for more information on Hereditary OPCA: > > > > > > National Ataxia Foundation > > > 2600 Fernbrook Lane, Suite 119 > > > Minneapolis, MN 55447 > > > Phone: > > > Fax: > > > E-mail: naf@... > > > Web: www.ataxia.org > > > > > > There are also ataxia organizations in other countries, just ask me if you need more > > > information. > > > > > > Regards, > > > Pam > > > > > > Werre wrote: > > > > > > > Kerri, > > > > > > > > By definition, none of the MSA types are hereditary. Remember though, that > > > > MSA-C or sporatic OPCA is much the same as hereditary OPCA and that is passed on > > > > from generation to generation. Hereditary OPCA is identifiable through a > > > > genetic test. > > > > > > > > Take care, Bill and Charlotte > > > > > > > > -------------------------------------------------------------- > > > > > > > > Kerri Francisco wrote: > > > > > > > > > Hi all > > > > > > > > > > I have a query about the different types of MSA. Are any of these > > > > > hereditary? > > > > > > > > > > Regards & Hugs > > > > > > > > > > Kerri from Aussie Land > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
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