NeuroTalk Support Groups - hereditary sensory autonomic neur. type1

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hereditary sensory autonomic neur. type1

Hello again, I recieved a letter from my doctor stating I very well may have hereditary sensory autonomic neuropathy type 1. I haven't been able to find much information on this. Are there any here who have this diagnosis? I found it is very rare. I have 'mild' syptoms according to the doctor...ha ha ha! I have obvious muscle atrophy mostly below waist but hands are getting thinner too. I have severe to moderate pain in feet, legs, knees and shoulders, sensory loss in feet and a few inches up my calf and some on hands, spots on upper calf and knee that are numb, high arches, hammer toes, thin boney ankles and calves, loss of weight that is due to stomach feeling full soon after starting to eat and due to muscle loss. I have normal muscle strength on PN exam but have lost much strength compared to what I think is normal. I have fatigue. I also have systemic Lupus that is under good control. I was told there is NOTHING that can be done to stop the muscle atrophy and the only suggestion was to help control the pain with lyrica which I am hesitant to start because of side effects. I take 6 - 7 vicodin/day to take the edge off pain. I saw Dr. P. James Dyke at Mayo so I've seen the expert.
Any comments would be appreciated. Raina

Apparently it resembles a type of CMT2 - and there are many subtypes. Did Dr. Dyke mention anything like that? Just curious. There are 22 + types of CMT that they have DNA blood testing for. And there are 50 types identified so far and there is no end in site.

Thank you.

Quote:

Originally Posted by Kitt (Post 607115)

Hi Kitt, thanks for your help now and a month ago. Dr Dyck told us I had hereditary PN but we didn't know what questions to ask and were only concerned about the atrophy, he said that's to be expected in PN and that it can't be reversed and he didn't see me in a wheelchair. He offered me more tests to confirm it but said I didn't need to go through them again at this time. He did not mention CMT. I was offered cymbalta and lyrica but declined because I'm on a similar drug, effexor and I was worried about lack of energy and weight gain if I took lyrica. He said to come back if I have muscle weakness. I'm on strong immune supressants for my lupus so it seems unlikely
the PN is inflamatory. I'm just really curious about my exact diagnosis. I've already figured out the possible outcomes. I'm doing some very light PT to strengthen arm, shoulder and leg muscles. I would like more pain control and may have to try the lyrica. I have a good life but am limited in what I can do because I get exhausted very easily.
thanks Kitt. Raina

I am sorry to hear this...that you have a hereditary form of PN.

This has to be the hardest type to deal with as a patient.

I hope you continue to come here and respond to others who may have this diagnosis too. Each day is a new day, and there may be new things on the horizon for this form of PN.

I've lived with a severe GI birth defect all my life. It cannot be fixed or go away. And I have learned over the years to listen to it and take care of it and myself. Each of us has something to deal with I guess.

Quote:

Originally Posted by raina (Post 607399)

Hi Raina, I know that Lupus is an autoimmune disease. CMT is hereditary. It would be good to know the exact diagnosis for your muscle weakness, etc.

If in fact, you do have a type of CMT, do not overdo as it can exacerbate CMT symptoms. And, of course, it is possible to have other diseases as well as CMT. Hopefully, you will get the correct diagnosis.

Also, no one not even a doctor, can predict how you will end up with CMT. And I see the doctor did say that you have hereditary PN and symptoms cannot be reversed. Is there anything like this in your family history - ever so slight or worse? Keep us posted. I wish you well.

Quote:

Originally Posted by Kitt (Post 607409)

Yes, my father (85)has PN and had pain but is now numb below his knees, he can walk but has to be careful and uses a cane most of the time, he also has a recliner that has a motorized lift so he can get out of it. My Mom had hammer toes, high arches and thin ankles and calves and balance problems(as do I)
but no pain or numbness and several siblings have PN foot pain and one has thin calves. I'm the only one who has muscle atrophy. Until my doctor visit we had never dreamed it was a hereditary neuropathy....We thought it was common to have PN pain. We have a lot of autoimmune disease in the family too and our sense of 'normal' is a little off as we all deal with pain and some level of disability.
Kitt, how do I know what is too much exercise? I'm only doing a few minutes a day but my shoulder pain never lets up even with the vicodin. I usually go unitl I can't because of pain or exhaustion. I don't want to give up anything that I can still do, like take care of grandchildren. Are there any good web sites I'm missing for information? thanks Raina

Quote:

Originally Posted by mrsD (Post 607405)

Thank you for sharing Mrs D. Sounds like you deal with a lot. Do you have PN also? Do you have any suggestions for supplements for my type of PN? I'm taking many Rx meds now to deal with my lupus but only Vit. D as a supplement. I notice the B vitamins are mentioned frequently
I don't want to stress my organs any more than they already are so I hesitate to take anything unless I get a good recommendation. thanks, Raina

There hasn't been much done in studies for your type of PN.

Yes I have PN too. (and spina bifida occulta --which may be linked to my GI defect).

I just have to be careful and not do big athletic things, and watch what I eat. I can get torsions and obstructions which I did alot in my 20's. After being diagnosed, I discovered how to protect my GI tract. I just can't eat alot of fiber or gassy foods.

I started with PN in my early 30's which became severe during pregnancy. It was a thyroid problem that caused that. My hands are better now, but my feet still have burning moments, and some arthritis tacked on due to age. Some may be insulin resistance. I have to walk with a walking stick in the winter...to balance myself, on slippery surfaces. But I am mostly okay and mobile for the rest of the year. I am old now, so it seems like a lot, but most people have other stuff they deal with.

Since the hereditary neuropathies have not been studied deeply, except for the one trial for one type of CMT using Vit C which was only marginally effective, there is not much to recommend for you. Make sure you have a good level of B12, and Vit D. Make sure you eat enough EFAs (Omega-3's) since low levels of these impact the myelin sheath.This is for the rest of your body etc. And try to stay alert and not blame everything on one problem, since other things may come up and be separate.

There is a website for MSers and supplements, which is pretty extensive. But I don't know how much would pertain to your situation.
http://www.msrc.co.uk/index.cfm?fuse...how&pageid=772
Over the past 10 yrs this list for MS has become very aggressive. I can recall times when supplements were pooh poohed for them.

If I come across something I will be sure to bring it here. You can count on that.

Raina,

Given your family history, you may have hereditary issues. They told me I had hereditary, but they did not test....later, I was diagnosed with autoimmune disease. Then the hereditary was disregarded. Now they feel it is autoimmune.

I have Sjogren's with PN, and ALSO myopathy, dysautonomia and numerous other systemic issues. I get IVIg. I think they should test to see if you have a gene marker if possible. (There are likely genes yet to be found, Kitt can fill you in on this.)

If it is inflammatory, they may be able to treat it. Even if it doesn't improve, it may prevent progression.

Quote:

Originally Posted by raina (Post 607490)

Hi Raina, From what you have said about your family, if it would indeed by a type of CMT it appears to more than likely have come from your mother and her side of the family. It could be the most common type of CMT which is CMT1A. This is if it is CMT at all.

You have seen an expert neurologist as far as CMT goes. You have probably read this site concerning Dr. Dyke.

http://mayoresearch.mayo.edu/mayo/re...ff/dyck_pj.cfm

If you had EMG/NCV testing, that alone could possibly determine if it is CMT1 or CMT2. It would not give the subtype though. DNA blood testing is available thru http://www.athenadiagnostics.com It is very expensive if they have to do the whole panel of tests. They do have a plan to help with the $$ if your insurance would not pay. But, again, if you only tested for CMT1A that would be less expensive. I'm sure Dr. Dyck knows about this.

There are Ascorbic Acid (Vitamin C) trials going on around the country. And also in other countries. So far there hasn't been much success. There is also much research going on that is funded by the MDA and also by the CMTA. So they are always doing research and trying to find a cure/treatment for CMT. On average it takes three to five years to develop a treatment for CMT1A (that's what they are working on) $10 million to move a drug thru the process. Then it is years and millions more to bring it to the marketplace. Having said that, it will be awhile before anything comes of it. Some of this is due to the fact that pharmaceutical companies aren't getting involved in the development of drugs for rare or orphan diseases such as CMT. CMT affects fewer than 200,000 people in the United States. Of course, it is misdiagnosed as well.

There is a medical alert list for those with CMT.

http://www.charcot-marie-tooth.org/med_alert.php

You need to be cautious as to what medications you take if you have CMT.

There is no magic bullet as far as treatment for CMT. Eat healthy, avoid stress, exercise within reason - your body will tell you - just take care of yourself. You absolutely do not want to take too much Vitamin B6. It can do damage to a CMTer. How much would more than likely depend upon where you are with symptoms. But, it can and does do damage. And just because they are doing trials with Vitamin C, you do not want to take too much of that either as in big doses, it is a drug. You also have to take into account how much vitamins you are getting thru your diet. If you eat healthy, it may be all that you need.

If indeed you do get information that you do have CMT, it would be the type that is in the family. In other words, if your Mom has it then that would be the same type. And remember that CMT symptoms vary greatly even within the same family.

You also say that you go on doing things until you can't because of pain and exhaustion. This tells me, if you have CMT, that you are pushing yourself way too much. There is a time when you do have to give things up or limit them whether we want to or not. Believe me, I know.

I hope you get a firm diagnosis soon so that you know what you are dealing with. Take care.

I might opt to see how much genetic testing I could get--

--given the number of other issues you have that might impact on your neuropathy/myopathy--you are certainly "co-morbid".

Buit in your case, the treament possibilites would be very different if they could eliminate some possible causes of these, or even confirm them. Inasmuch as you have lupus, which can cause neuropathy/myopathy all by itself, and is often found with other autoimmune conditions, AND as many of the treatments for these might be ill-advised in those with certain hereditary neuropathies, it might be worth it to see how narrowed-down a diagnosis you can get. And you may just be advancing science at the same time.