Undiagnosed Neuromuscular Disorder: Searching for Answers

Posted by chamiltonatc @chamiltonatc, Oct 9 2:58pm

Hi, I am a 29 yr old female with an undiagnosed neuromuscular disorder, and hoping to find suggestions on a diagnosis. in 2016 I began to have tingling/numbness in the medial aspect of my L foot. Over the past few years, the numbness/tingling has progressed to include my left leg, left hand/arm, L side of lower face, and recently has began in the same pattern in my R foot/lower leg and R hand. This last year my symptoms have progressed significantly. I have also moved in the past year from Ohio/PA area to North Carolina. I am heat intolerant and sweat excessively. My symptoms now include nerve pain down both my legs (mostly posterior), muscle fasciculations, muscle cramps with activity, weakness with activity (L foot drop and L quad weakness with cardio), decreased fine motor control/dexterity in both hands L>R, daily headaches (I wake up with them), daily fatigue, difficulty staying asleep, dizziness with transitional movement, syncope, and sensitivity to deep pressure to my skin. When I have a syncopal episode, it starts with a pressure in my mid-thoracic spine, the pressure goes up my spine and takes over my head, then I pass out. I also feel like I am losing hearing in my left ear. it constantly feels "plugged" and like I am hearing underwater. My short term memory has declined and I am constantly searching for words. My heat rate is typically above 100bpm.

Here are the tests and results my neurologist has ran:
EMG to L arm/leg: Diffuse myotonia
MRI of brain: pineal gland cyst (which I've had since childhood), otherwise normal
MRI of cervical spine: C5-C6 shallow disc bulge, otherwise normal
Skin biopsy: showed mild degenerative changes in the small fiber nerves, indicative of future neuropathy. My neurologist said he considers this a normal result
Autoimmune panel: Normal
Myositis Panel: Normal
Lyme: negative
Genetic testing (pending): testing for myotonia congenita and paramyotonia congenita
Orthostatic testing: normal

I am currently on Cymbalta for nerve pain. I am seeing OT for my hands and having dry needling at PT for my headaches. My neurologist also referred me to psych to rule out anxiety as some of my symptoms. My psychologist stated she does not think my symptoms are psychosomatic, but I am going through therapy anyway to deal with the frustration of not having an answer for my symptoms. My neurologist said that even if my genetic testing comes back positive, it would not explain my sensory symptoms. I also wear compression stockings (especially at night) which helps decrease the tingling and pain in my legs.
Thank You in advance for reading my story, I am open to all suggestions!

Liked by Hank

@chamiltonatc Im so sorry for all your problems at such a young age . I do welcome you to connect , we arent Dr.s but can try to help . May I first ask you when did all this start and how did it start? Have you seen a cardiologist for any information? Have you considered going to Mayo in Fla. Jacksonville . That hospital is world renowned in research and can diagnose where others miss. My prayers to you

REPLY
@lioness

@chamiltonatc Im so sorry for all your problems at such a young age . I do welcome you to connect , we arent Dr.s but can try to help . May I first ask you when did all this start and how did it start? Have you seen a cardiologist for any information? Have you considered going to Mayo in Fla. Jacksonville . That hospital is world renowned in research and can diagnose where others miss. My prayers to you

Jump to this post

@lioness thank you! This started 4 years ago and with just tingling on the inside of my left foot. I have not seen a cardiologist, my neurologist has been checking my BP, seeing if I’m orthostatic, each time I see him. And so far, that seems stable. And I’ve been doing some research on getting a second opinion, I’m just not sure where to go.

REPLY

@chamiltonatc , I sympathize & understand your frustration. I'm at the point, as well, where my neurologists don't have any diagnosis for my issues & have recommended that I get treatment for anxiety & depression. He said anxiety often manifests as a neurological condition. I don't think that's my issue but, like you said, therapy can't hurt. I wish the best for you. I really hope you get some answers.

REPLY
@cb772

@chamiltonatc , I sympathize & understand your frustration. I'm at the point, as well, where my neurologists don't have any diagnosis for my issues & have recommended that I get treatment for anxiety & depression. He said anxiety often manifests as a neurological condition. I don't think that's my issue but, like you said, therapy can't hurt. I wish the best for you. I really hope you get some answers.

Jump to this post

@cb772 im so sorry that you are going through it too!! I hope you find some answers! I’ve found the biggest thing is making sure that I keep advocating for myself, . I work in the healthcare field and see it way too often that some doctors are so quick to blame symptoms on mental health issues.

REPLY

@chamiltonatc
Hi, my name is Hank, and I'd also like to welcome you to this forum. I have read what you wrote. So the EMG shows diffuse myotonia? If the genetic test shows it as well (I hope not!) you will have one diagnosis that will account for some of your problems. There is another person on here who has myotonia congenita, @kimcvi whom you can contact to exchange notes. There is a discussion which she started about her MC. Here is the link: https://connect.mayoclinic.org/discussion/myotonia-congenita/?pg=6#comment-418222
The thing I remember most about her was her frustration with not being able to share or network with others with MC since it's so rare.

Not sure whether you know how to get around on Connect, but if you click on any Mayo name (in blue, with the "@" symbol) you will be taken to their profile which contains a history of all of that person's posts, which is very useful for learning about their story as they have discussed it on Connect. It sounds like your sensory symptoms resemble peripheral neuropathy. There is an entire group on connect regarding neuropathy, just FYI.

Some people present with a wide array of symptoms affecting different locations of the body and different systems. Because you were otherwise healthy prior to your medial left foot issue in 2016 it may be that everything has proceeded from one main cause, whatever it may be, and it might just be genetic in origin. One thing's for sure, rule everything in, and read as much as you can about different symptoms and diseases, both here on Connect and on the broader internet. A couple of recent examples of youngish people with a broad array of symptoms here on Connect:

-yesterday a young (27) lady @hypotemusea wondered whether her symptoms might stem from contracting Lyme disease. You could ask yourself if this is likely in your case.

-a while back a woman of 42 @brayimee also had a compendium of seemingly unrelated and dispersed symptoms. So far she has been treated for Slipping Rib syndrome which her doctor believes may be at the root of all/most of her issues (she was operated on for that a couple of months ago). Some of her symptoms are still with her.

Right now you are in the mystery stage, an uncomfortable place to be as you try to live your life with a variety of inconvenient and very painful issues without explanation. As I said earlier, please be open to all info that comes your way, be one pointed in your efforts to get to the bottom of this, and hopefully one day soon you will have some sort of answer(s). Advocate for yourself and become a motivated researcher. I have been amazed where doing that can lead. Something is out there for you to find that can help, and you may very well find it if you put enough effort in. Sorry for just a pep talk, it's about all I can do here, but I think it is good advice for you.

Meanwhile, though I do understand the need for things to deal with pain, be careful about the drugs they suggest. Really understand both short term and long term side effects. Consider alternatives. One is low dose naltrexone (LDN) which you can find out about through internet search (and there is a Connect discussion about that also). Connect is a great pace to canoodle ideas with other people. Good luck and will hope to learn more about your ailments as you do. Keep us updated if you would. Thanks.

Best, Hank

REPLY

Hello @chamiltonatc,

I would also like to welcome you to Mayo Clinic Connect. Most of the members of Connect understand the difficulty of having a rare disorder that is difficult to diagnose and/or difficult to treat.

I would also recommend, like @lioness, that you seek a second opinion. I would also recommend that you get your second opinion from a research/teaching medical facility. I'm thinking of a university medical school and/or a Mayo Clinic facility (there are three Mayo Clinic facilities in the U.S.). If you would like to schedule an appointment at a Mayo facility here is the link for appointments, http://mayocl.in/1mtmR63.

I applaud you for going through the counseling process. It is helpful when you are dealing with frustration in seeking a treatment plan and/or a diagnosis. Could you share what the most difficult symptom you are experiencing right now?

REPLY
@jesfactsmon

@chamiltonatc
Hi, my name is Hank, and I'd also like to welcome you to this forum. I have read what you wrote. So the EMG shows diffuse myotonia? If the genetic test shows it as well (I hope not!) you will have one diagnosis that will account for some of your problems. There is another person on here who has myotonia congenita, @kimcvi whom you can contact to exchange notes. There is a discussion which she started about her MC. Here is the link: https://connect.mayoclinic.org/discussion/myotonia-congenita/?pg=6#comment-418222
The thing I remember most about her was her frustration with not being able to share or network with others with MC since it's so rare.

Not sure whether you know how to get around on Connect, but if you click on any Mayo name (in blue, with the "@" symbol) you will be taken to their profile which contains a history of all of that person's posts, which is very useful for learning about their story as they have discussed it on Connect. It sounds like your sensory symptoms resemble peripheral neuropathy. There is an entire group on connect regarding neuropathy, just FYI.

Some people present with a wide array of symptoms affecting different locations of the body and different systems. Because you were otherwise healthy prior to your medial left foot issue in 2016 it may be that everything has proceeded from one main cause, whatever it may be, and it might just be genetic in origin. One thing's for sure, rule everything in, and read as much as you can about different symptoms and diseases, both here on Connect and on the broader internet. A couple of recent examples of youngish people with a broad array of symptoms here on Connect:

-yesterday a young (27) lady @hypotemusea wondered whether her symptoms might stem from contracting Lyme disease. You could ask yourself if this is likely in your case.

-a while back a woman of 42 @brayimee also had a compendium of seemingly unrelated and dispersed symptoms. So far she has been treated for Slipping Rib syndrome which her doctor believes may be at the root of all/most of her issues (she was operated on for that a couple of months ago). Some of her symptoms are still with her.

Right now you are in the mystery stage, an uncomfortable place to be as you try to live your life with a variety of inconvenient and very painful issues without explanation. As I said earlier, please be open to all info that comes your way, be one pointed in your efforts to get to the bottom of this, and hopefully one day soon you will have some sort of answer(s). Advocate for yourself and become a motivated researcher. I have been amazed where doing that can lead. Something is out there for you to find that can help, and you may very well find it if you put enough effort in. Sorry for just a pep talk, it's about all I can do here, but I think it is good advice for you.

Meanwhile, though I do understand the need for things to deal with pain, be careful about the drugs they suggest. Really understand both short term and long term side effects. Consider alternatives. One is low dose naltrexone (LDN) which you can find out about through internet search (and there is a Connect discussion about that also). Connect is a great pace to canoodle ideas with other people. Good luck and will hope to learn more about your ailments as you do. Keep us updated if you would. Thanks.

Best, Hank

Jump to this post

@jesfactsmon Thank you so much for all the advice and other people to connect with! I appreciate all pep talks and information I can get.

REPLY
@hopeful33250

Hello @chamiltonatc,

I would also like to welcome you to Mayo Clinic Connect. Most of the members of Connect understand the difficulty of having a rare disorder that is difficult to diagnose and/or difficult to treat.

I would also recommend, like @lioness, that you seek a second opinion. I would also recommend that you get your second opinion from a research/teaching medical facility. I'm thinking of a university medical school and/or a Mayo Clinic facility (there are three Mayo Clinic facilities in the U.S.). If you would like to schedule an appointment at a Mayo facility here is the link for appointments, http://mayocl.in/1mtmR63.

I applaud you for going through the counseling process. It is helpful when you are dealing with frustration in seeking a treatment plan and/or a diagnosis. Could you share what the most difficult symptom you are experiencing right now?

Jump to this post

@hopeful33250 Thank you for the recommendation on a second opinion! Right now the most difficult symptoms are my numbness/tingling, because I don't know what is causing it and my neurologist also does not seem to have anymore ideas. But also my decreasing fine motor coordination and dexterity in both of my hands. I work in Physical Therapy, which is a very hands on field, so my decreasing ability to use my hands for long periods of time makes me worried for the future.

REPLY
@chamiltonatc

@hopeful33250 Thank you for the recommendation on a second opinion! Right now the most difficult symptoms are my numbness/tingling, because I don't know what is causing it and my neurologist also does not seem to have anymore ideas. But also my decreasing fine motor coordination and dexterity in both of my hands. I work in Physical Therapy, which is a very hands on field, so my decreasing ability to use my hands for long periods of time makes me worried for the future.

Jump to this post

@chamiltonatc
It will be good to know the results of your tests. If the tests do not provide satisfactory answers and you come to an impasse, perhaps you might, as @hopeful33250 mentioned, want to ask your doctor to refer you to Mayo or even do a self referral, which can be done also. Yours may end up being hard case to diagnose so be open to traveling if necessary to get to doctors and teams able to analyze more complicated or mysterious problems. Best to you, Hank

REPLY
Please login or register to post a reply.