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Is it worth trying to resolve peripheral neuropathy?

Neuropathy | Last Active: Aug 24, 2020 | Replies (38)

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@mjpm2406

I have a family history of PN going back at least four generations. They said it was the Anglo Saxon disease because our family came from Southern England and there was a large family cluster of people in that area with similar symptoms. No one had ever had a genetics test but doctors in Canada diagnosed my oldest brother with CMT. My symptoms started at age 60. Loss of feeling in my toes, inability to bend my toes, tingling in my lower legs. At age 72 it kicked into high gear with spasms shooting up my legs, into my hips and across my shoulders Gabapentin and Lyrica didn't help. So I opted to seek out a geneticist to identify what was really going on. I had a comprehensive neuropathy panel done that looked at 83 genes known to cause CMT and HSN plus several other add-on genes to eliminate other potential diseases. The results were adult-onset SMA based on the detection if the SMN1 coding gene and CMT Type 4. There were two other gene abnormalities which require another panel which is designed to tests all the genes known to cause Muscular Dystrophy. The SMA thing is tough to grasp because 90% of people who get this disease are children and for them it's a terrible disease. The genetic test is a simple saliva test and the company that has those tests is Invitae. You can go to Invitae.com to look at the various panels they have. Most insurance companies cover these tests. If not, they have a program for $250 per panel. I wanted to know and I'm on a personal search to put a name to whatever it is that keeps me up all night. Sleeping in a bed is not possible because of the tingling and spasms. So I end up on a recliner every night. Good luck with your NP.

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Replies to "I have a family history of PN going back at least four generations. They said it..."

@mjpm2406 - Thanks for sharing your your experience and knowledge on the gene testing and finding out you have adult-onset Spinal Muscular Atrophy (SMA). I know it's difficult sleeping in a recliner every night only because I spent some time in one at another point in my life when I had some lower back issues. I recently purchased an adjustable bed frame and memory foam mattress which help me. Most of these types of beds have a zero gravity setting (ZG button on a remote). Sleeping in the zero gravity position can reduce pressure from the heart and allow better blood flow throughout the body.

You may have already found the SMA Foundation's website but I thought I would share it just in case you haven't seen it. The site has a link to the DNA Learning Center's Informational SMA Videos here under the General Info about SMA heading: https://smafoundation.org/about-sma/2685-2/

Have you found any therapy or treatments that help with the adult-onset SMA?