I am fortunate to live in a city that has a research center, and a clinic. I was referred there (at my request) and went to an appointment. Prior to that I filled out a very lengthy medical questionnaire. At the appointment I met with a genetic counselor, and had blood drawn. She really felt like I would have CMT, based on my symptoms, and the fact that my sister has the same symptoms. However, nothing meaningful was found. She told me to keep waiting, as new genomes were always being discovered, and I would be contacted if something eventually showed up. Honestly, the whole topic is confusing, but I trust the answer.
If you can, get whole genome sequencing - all your chromosomes in the nucleus plus the DNA in you mitochondria are sequenced. They can hold onto your sequence (ATCG), and as they learn more over time about culprit mutations that cause CMT, you can have them re-evaluate your initial data. Also, you can have your sequencing results sent to institutions that are doing database mining research like University of Miami or Children's Hospital of Pennsylvania, among others. Be aware, though, that some mutations may show up that are "incidental", capable of potentially causing a disease that you did not anticipate. Personally, I'd rather know everything I can to take preventive measures and to know the underlying mechanism of any disease I presently have. You usually can't treat a disease until you know the cause.
John, Volunteer Mentor | @johnbishop | Oct 19, 2023
@llg, I've had DNA testing done but not specifically for neuropathy. Not sure it would make any difference for me as far as treatments go. Here are some articles on the topic you may find helpful.
Just yesterday I had a routine check-up with my PCP. She suggested genetic testing through their Medical University genetic program. I figure I have nothing to lose and maybe there’s a chance information can be found that can help my bloodline. Oddly, no Neurologist I’ve had, even in this system, has ever recommended this even when I once inquired about CMT. I participated in this University’s cardiac genetic testing and we did learn some information. My wish today is that one swab could just test for everything while they’re at it 🙂 but I suppose with insurance there must be a medical reason for s specific test.
I am fortunate to live in a city that has a research center, and a clinic. I was referred there (at my request) and went to an appointment. Prior to that I filled out a very lengthy medical questionnaire. At the appointment I met with a genetic counselor, and had blood drawn. She really felt like I would have CMT, based on my symptoms, and the fact that my sister has the same symptoms. However, nothing meaningful was found. She told me to keep waiting, as new genomes were always being discovered, and I would be contacted if something eventually showed up. Honestly, the whole topic is confusing, but I trust the answer.
I have at least five generations on my mother’s side who were diagnosed with Hereditary Sensory Neuropathy (now CMT). It comes down on the x-chromosome so thanks mom, grandma, etc. my symptoms started at 60. My daughter started at 45 so my three daughters and I went for EMG/Needle EMG testing at Weill Cornell Hospital in Manhattan. The genetic team also performed a whole Exome sequencing test. Turns out I have chronic sensorimotor axonal polyneuropathy based on the EMG tests. My daughters do not have that disease (yet and I hope never). The genetics tests indicated that I have CMT2 and CMT4B. Oldest daughter was negative for CMT. Middle daughter was positive for CMT2. Youngest daughter positive for CMT2 and CMT4B. So now it’s seven generations. My genetic tests also identified me as a SMA Carrier and a GAN carrier. My daughters were negative for those diseases. I’ve had these polyneuropathy disorders for at least 17 years now and it’s challenging. I have no feeling below my knees and no sensation in my wrists and hands. I do have walking and balance issues. Lots of falls and several surgeries do to falls. But we learn to suck it up and deal with it. My wife and daughters have been very supportive so I’m doing OK.
I have at least five generations on my mother’s side who were diagnosed with Hereditary Sensory Neuropathy (now CMT). It comes down on the x-chromosome so thanks mom, grandma, etc. my symptoms started at 60. My daughter started at 45 so my three daughters and I went for EMG/Needle EMG testing at Weill Cornell Hospital in Manhattan. The genetic team also performed a whole Exome sequencing test. Turns out I have chronic sensorimotor axonal polyneuropathy based on the EMG tests. My daughters do not have that disease (yet and I hope never). The genetics tests indicated that I have CMT2 and CMT4B. Oldest daughter was negative for CMT. Middle daughter was positive for CMT2. Youngest daughter positive for CMT2 and CMT4B. So now it’s seven generations. My genetic tests also identified me as a SMA Carrier and a GAN carrier. My daughters were negative for those diseases. I’ve had these polyneuropathy disorders for at least 17 years now and it’s challenging. I have no feeling below my knees and no sensation in my wrists and hands. I do have walking and balance issues. Lots of falls and several surgeries do to falls. But we learn to suck it up and deal with it. My wife and daughters have been very supportive so I’m doing OK.
First, a Neurologist at Stony Brook ordered a saliva test from INVITAE.com which indicated I had multiple gene mutations. I then went to see a Dr. Mary Vo at the Neuropathy Center at Weill Cornell Medicine in Manhattan. Dr. Vo got my daughters and me into a research project based on our family history of CMT. The genetic folks at Weill Cornell did the whole Exome Sequencing test. By the way, you can get saliva testing at INVITAE.com for about $300. They have tests for Neurological Disorders, Neuromuscular Disorders, SMA, etc. Many of the tests are comprehensive in that they look for 100 gene mutations known to cause certain disorders.
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I actually did genetic testing at Mayo. It was covered by insurance.
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2 ReactionsI am fortunate to live in a city that has a research center, and a clinic. I was referred there (at my request) and went to an appointment. Prior to that I filled out a very lengthy medical questionnaire. At the appointment I met with a genetic counselor, and had blood drawn. She really felt like I would have CMT, based on my symptoms, and the fact that my sister has the same symptoms. However, nothing meaningful was found. She told me to keep waiting, as new genomes were always being discovered, and I would be contacted if something eventually showed up. Honestly, the whole topic is confusing, but I trust the answer.
-
Like -
Helpful -
Hug
3 ReactionsIf you can, get whole genome sequencing - all your chromosomes in the nucleus plus the DNA in you mitochondria are sequenced. They can hold onto your sequence (ATCG), and as they learn more over time about culprit mutations that cause CMT, you can have them re-evaluate your initial data. Also, you can have your sequencing results sent to institutions that are doing database mining research like University of Miami or Children's Hospital of Pennsylvania, among others. Be aware, though, that some mutations may show up that are "incidental", capable of potentially causing a disease that you did not anticipate. Personally, I'd rather know everything I can to take preventive measures and to know the underlying mechanism of any disease I presently have. You usually can't treat a disease until you know the cause.
-
Like -
Helpful -
Hug
4 Reactions@llg, I've had DNA testing done but not specifically for neuropathy. Not sure it would make any difference for me as far as treatments go. Here are some articles on the topic you may find helpful.
--- Genetic Testing: Is It for Me?:
https://neuropathycommons.org/genetics/genetic-testing-it-me
--- Hereditary Neuropathies:
https://www.ninds.nih.gov/health-information/disorders/hereditary-neuropathies
--- FPN Webinar: Hereditary Neuropathy and Genetic Testing:
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2 ReactionsJust yesterday I had a routine check-up with my PCP. She suggested genetic testing through their Medical University genetic program. I figure I have nothing to lose and maybe there’s a chance information can be found that can help my bloodline. Oddly, no Neurologist I’ve had, even in this system, has ever recommended this even when I once inquired about CMT. I participated in this University’s cardiac genetic testing and we did learn some information. My wish today is that one swab could just test for everything while they’re at it 🙂 but I suppose with insurance there must be a medical reason for s specific test.
-
Like -
Helpful -
Hug
2 ReactionsI have at least five generations on my mother’s side who were diagnosed with Hereditary Sensory Neuropathy (now CMT). It comes down on the x-chromosome so thanks mom, grandma, etc. my symptoms started at 60. My daughter started at 45 so my three daughters and I went for EMG/Needle EMG testing at Weill Cornell Hospital in Manhattan. The genetic team also performed a whole Exome sequencing test. Turns out I have chronic sensorimotor axonal polyneuropathy based on the EMG tests. My daughters do not have that disease (yet and I hope never). The genetics tests indicated that I have CMT2 and CMT4B. Oldest daughter was negative for CMT. Middle daughter was positive for CMT2. Youngest daughter positive for CMT2 and CMT4B. So now it’s seven generations. My genetic tests also identified me as a SMA Carrier and a GAN carrier. My daughters were negative for those diseases. I’ve had these polyneuropathy disorders for at least 17 years now and it’s challenging. I have no feeling below my knees and no sensation in my wrists and hands. I do have walking and balance issues. Lots of falls and several surgeries do to falls. But we learn to suck it up and deal with it. My wife and daughters have been very supportive so I’m doing OK.
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Hug
6 ReactionsMay I ask, Who ordered your DNA test?
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1 ReactionIs anyone getting IVIG infusions?
Thank You
First, a Neurologist at Stony Brook ordered a saliva test from INVITAE.com which indicated I had multiple gene mutations. I then went to see a Dr. Mary Vo at the Neuropathy Center at Weill Cornell Medicine in Manhattan. Dr. Vo got my daughters and me into a research project based on our family history of CMT. The genetic folks at Weill Cornell did the whole Exome Sequencing test. By the way, you can get saliva testing at INVITAE.com for about $300. They have tests for Neurological Disorders, Neuromuscular Disorders, SMA, etc. Many of the tests are comprehensive in that they look for 100 gene mutations known to cause certain disorders.