Neuromuscular In memory of Rose Marie.


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Old 11-13-2014, 02:23 PM #1
aneczka aneczka is offline
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Default Genetic testing

Just ordered my genetic test kit. I will have to see how to get an interpretation of raw data, but I know where to upload the report, once I have it, to find my methylation profile. I'm not so keen on finding relatives in some distant part of the world, as I am to find the causes of my neurological problems.

Has anyone got experience with genetic tests? And with their interpretation?
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Multifocal motor neuropathy with conduction block since late 2005, diagnosed 12 November 2014
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Old 11-13-2014, 04:05 PM #2
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I ran mine through Genetic Genie. It provided some explanation with my mutations that pointed me in a direction to follow for dietary changes/supplements. Can't link it here for you but you can Google it.
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Idiopathic Sensorimotor Polyneuropathy
Atypical Migraine
Chiari 1 malformation 7 mm
PLIF L5-S1 Sept. 2013

Lumbar MRI March 2013: degenerative changes from L3 to S1. L3 and L4 have tiny annular tears with disc bulge. L5-S1 bilateral pars defects anterolisthesis (spondylosis/spondylithesis?) I have an annular tear here too, along with a conjoined left L5-S1 nerve root. Mild effacement of the thecal sac at the origins of the bilateral S1 nerve roots, left greater than right. Mild bilateral Neural foraminal stenosis.
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Old 11-13-2014, 04:08 PM #3
aneczka aneczka is offline
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That one is on my list, thanks. Hope their explanations were clear enough. I know exactly nothing about genetic issues and I don't think I will have appetite or time to study it extensively :P
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Old 11-13-2014, 04:25 PM #4
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Lightbulb

This is a start.
http://www.snpedia.com/index.php/SNPedia

There is a poster on PN who looked up SNPs. I'll look for her
posts, later.
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Old 11-13-2014, 04:41 PM #5
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Lightbulb

This is one link:

http://neurotalk.psychcentral.com/thread165486.html
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Old 11-13-2014, 05:03 PM #6
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It was easy enough to find a program for methylation mutations, but since they shut down the medical analysis arm of 23&me in 2013, how do we now go about researching or raw genetic data? For me, especially how it pertains to PN?
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Idiopathic Sensorimotor Polyneuropathy
Atypical Migraine
Chiari 1 malformation 7 mm
PLIF L5-S1 Sept. 2013

Lumbar MRI March 2013: degenerative changes from L3 to S1. L3 and L4 have tiny annular tears with disc bulge. L5-S1 bilateral pars defects anterolisthesis (spondylosis/spondylithesis?) I have an annular tear here too, along with a conjoined left L5-S1 nerve root. Mild effacement of the thecal sac at the origins of the bilateral S1 nerve roots, left greater than right. Mild bilateral Neural foraminal stenosis.
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Old 11-13-2014, 05:15 PM #7
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Tongue

I've read some articles from Dr. Amy Yasko, who recommends diet and supplementation for various methylation pathway mutation SNP's. Her work addresses how these mutations may play a role in autism, but for me, at least she provided a roadmap. If you have this, do this, kind of approach...
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Idiopathic Sensorimotor Polyneuropathy
Atypical Migraine
Chiari 1 malformation 7 mm
PLIF L5-S1 Sept. 2013

Lumbar MRI March 2013: degenerative changes from L3 to S1. L3 and L4 have tiny annular tears with disc bulge. L5-S1 bilateral pars defects anterolisthesis (spondylosis/spondylithesis?) I have an annular tear here too, along with a conjoined left L5-S1 nerve root. Mild effacement of the thecal sac at the origins of the bilateral S1 nerve roots, left greater than right. Mild bilateral Neural foraminal stenosis.

Last edited by jenng; 11-13-2014 at 05:16 PM. Reason: clarification
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Old 11-13-2014, 06:27 PM #8
aneczka aneczka is offline
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I will go through Genetic Genie, jenng. Couldn't find anything else.
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