Well...I guess its time I asked for help.

[BlueSkies21]

Hello all. I'm a 30YM in the US. I have been experiencing troubling symptoms for about 5 months now, and I never wanted to make a thread here, but I'm about at the end of my rope trying to figure this out. I apologize for the long thread, but I've spent alot of time gathering as much information as I can before even bringing this to you. I'm not looking for reassurance that I dont have ALS, nor am I looking for someone to tell me I do, if I dont. I'm hoping that those here can read my story and tell me if this seems to fit their experiences, or if it seems to be something else that others have mistaken for ALS in the past. So here is my story:

About 6 months ago, I took a hard fall and fractured my left knee. This was not related to my current illness (there were outside factors that caused this fall), but I will say it caused significant swelling and inflammation. This kept me at home for most of the last 5 months and made me relatively sedentary. Due to not being able to use it, in about 6 weeks, my left quad had atrophied to the point that I couldn't even flex it. I was placed into physical therapy and over time the quad rebuilt almost to a normal size. Ironically this leg does not appear to have any symptoms that the other leg is having.

Anyway, about 6 weeks after the injury, I began to experience full body twitching. These appeared out of nowhere, and havent stopped since that day.I also realized there was constant twitching, pulsing, and a sensation of squeezing in my right calf. Also, my right ankle developed a feeling that I can only describe as intense, focused weakness, like being disconnected. It doesnt feel numb or tingly, nor has it failed. It simply feels like it's made of wood or something, like it isnt attached to my leg.

2 weeks later, the back half of my tongue started to feel stiff. This feeling grew over time to cover the entire top of my tongue and then the bottom. It has made my speech difficult to articulate. In addition, my left upper arm and shoulder began to get a constant feeling of squeezing and pulsing. My thumbs (moreso my left) started hurting when using them. Using my left thumb to even pull up my pants in the morning was so painful I could barely do it. It felt like I was trying to hold up a bowling ball with just my thumb, like my thumb couldn't support any weight. I also noticed my facial muscles had become weak. Smiling, frowning, or squinting caused the muscles to tremble.

At this point I saw a neurologist. Clinical was clean. Referred me for bloodwork, MRI's (brain and spinal) and EMG (right arm and leg only). All were done, everything came back normal. She diagnosed BFS.

Weeks later, I followed up with the neurologist because my symptoms continued to worsen. At this time I noticed that my left arm was feeling weaker than the right. It would tremble and buckle when I tried to do normal things, like open a window, or pour a drink. During this visit, I also realized my right calf was quite a bit smaller and less toned that my left one. Didnt look sick per say, but definitely not equal. Neurologist agreed to do a more thorough EMG, full body this time. Results came back clean.

At that point, I figured maybe I was simply getting weak from sitting around for months and perhaps once I returned to regular activities, it would improve. I was able to return to work and regular activites about a month ago.

Since then, all symptoms have progressively gotten worse and more noticeable. So here is where I'm currently at:

-Fully body twitches still present.

-Right calf still stiff and experiences twitching, pulsing, and squeezing. Continues to be smaller than the left but doesnt looks to have changed in the last two months.

-Right ankle still has a large band of the disconnected feeling described above. Has not failed.

-Left shoulder and upper arm twitching and squeezing progressively worsening, and has spread to about were my elbow is. It will have bouts of intense twitching near my elbow.

-Weakness in the left arm has progressed. It feels like the shoulder and bicep are are trembly and shaky any time they are used. It is now noticeable in everyday activities. In addition, my left hand is starting to have difficulties moving and feels weak. It feels like the weakness in my upper arm is causing me to have difficulties moving my lower arm and hand. Simple things like holding a plate or manipulating a video game controller cause my hand and left arm to tremble. Even just extending all my fingers on my left hand causes it to tremble significantly.

-My tongue continues to feel stiff. I have adapted by just not pronouncing hard sounds with my tongue, but it is getting more difficult to speak in an articulate manner.

- My facial weakness has progressed. It is difficult to hold facial expressions or smile for a long time. I can hardly squint in sunlight, as the muscles around my eyes tremble uncontrollably when I try. I cant even open my mouth wide without my lips trembling.


And that brings me to your forum. I dont know where else to go with all of this. The doctors cant figure anything out, the tests so far show nothing. I feel like all I can do now is allow myself to just get weaker and worse until it's so obvious that it cant be denied. And I hate that. So I guess I would ask, does this sound like it could be ALS? Is there something else I should be doing to diagnose it? Does it sound like any other illness that anyone else has brought here before?

Thank you very much for your time. I know it's probably hard to listen to people who have no diagnosis, but I wouldnt be here if I didnt feel like it was one of my last hopes to figure this out. Any help and advice is appreciated more than you know.

 

[BlueSkies21]

Sorry to bump this, but does anyone have any thoughts on my story? I wasnt even concerned with ALS until I realized that the spots that had focused twitching are the spots in which my muscles are getting noticeably weak. I am now very concerned about it. Any help is appreciated.

Thank you

 

[Nikki J]

2 normal emgs and symptoms all over ( arm,leg and bulbar) sound like it isn’t going to be ALS. If you had ALS in 3 regions it should have been glaringly obvious on clinical exam let alone emg.

have you seen the neurologist recently? That would definitely be my next step if not. once you have done so if she find clinical weakness and or upper motor neuron signs then you should discuss next steps. Sometimes the answer if reassess in a few months which is hard. If that happens ask what her thoughts are and what would be longer range plan

you might ask her if you should see someone else ( another specialty) or if a second opinion might be helpful

 

[BlueSkies21]

Nikki, thanks for the advice. I had a follow up with the neurologist this week. In the physical, she could not find clinical weakness at this time. She did recommend a new brain MRI since my last one was about six months ago, so I guess I will see what that brings. It's very frustrating that no 'clinical' weakness shows up on the exam, but then I go home and try to lift a stack of folded clothes and my arm trembles and buckles like I'm lifting a heavy weight. My arm continues to slowly feel worse and weaker over time, and never feels like it gets better. I feel like I'm just waiting for it to get bad enough to be obvious at this point.

I'll post an update to this thread if/when I get a major update or if I finally find out what is going on.

 

[lgelb]

Twitching can lead to feelings of weakness, that are not really weakness. Your story sounds more systemic. Were you evaluated by an internist?

 

[BlueSkies21]

Igelb, no I've just been evaluated by a neurologist in the area. I've also briefly spoken to their neuro-muscular specialist, as he did my EMG. Maybe I should get the opinion of another from a different practice?

And as for the twitching and weakness...my arm is getting weak in a way that is unlike anything I've ever felt. I havent lost function but it's making normal things uncomfortable to do. When I pull up on my car door handle, my hand and fingers tremble. When I'm in my car and need to grab something in the back seat, I pull myself forward on the steering wheel, and my bicep trembles so much I can hardly do it anymore. Even when im washing my hands, cupping my hand to hold soap and water makes it tremble. Like any time i exert any force with any part of that arm, it trembles noticeably. I would almost have just thought my left arm was having muscle or nerve issues. But the fact that it has come on at the same time as body-wide twitching, a 24/7 stiff right leg, and a weak face is concerning me greatly.

Would ALS muscle weakness present like this? I keep waiting for anything to get better but it only steadily gets worse. I am very worried about where this is leading and I have no idea what to do now.

 

[lgelb]

As I said, I wouldn't rush to another neurologist before seeing an internist. Not everything is neurological. At least there are things that can be ruled out, even though you say you had previous blood work.

No, this still does not sound like ALS.

 

[BlueSkies21]

Hello again, wanted to post an update. Everything has continued to progress downhill. In the time since my last post (about 6 weeks ago):

-My left leg, which was almost unaffected, began twitching and squeezing just like the right one. Both legs now feel very stiff 24/7 and feel equally bad.

-The weakness in my left arm has spread to the right arm. Both shoulders feel extremely fatigued all the time, and both wrists and hands are stiff. The left arm is so bad I almost can't support my weight with it anymore (like getting up after laying on the ground). Even holding my phone makes my fingers tremble.

-My throat developed noticeable swallowing issues that I could feel get worse and worse every day. A week ago it got worse to the point where I constantly feel like the part of my throat just below my chin is collapsing and I feel like I'm being choked all the time. Even worse when laying down or on my side.

I had a repeat MRI done, came back clean. Had more doctor visits, still no idea. Went on medical leave from work because I'm having problems physically doing it now. And I feel terrible all day, every day.

Does anyone know if there is even anything left to rule out? I'm in a pretty bad place right now and imagine it probably isnt going to get any better.

Thanks

 

[lgelb]

I couldn't possibly say what is left to rule out without knowing what already has been. I assume you had blood work, an internist examined you, etc. That person is the one to ask, "What's next?" When there is nothing physical, we would look at mental health/counseling. But if you are so physically affected that you have had to leave work, it is worth getting a second opinion even from another internist.

What I can say is that there's no evidence that ALS is on the table.

 

[BlueSkies21]

After speaking to my PCP, we decided it is time to see another neuro, since the "Let's wait and watch it get worse" approach is getting old. The weakness has now spread to pretty much every part of my body. I recently noticed that even my quads and thighs are weak, and they are now trembling when I walk down stairs. So at this point, my face, chest, shoulders, biceps, forearms, wrists, fingers, thighs, quads, calves, and ankles are weak and tremble when used. Has anyone seen ALS present like this? So far I havent lost use of anything but the weakness, stiffness, and continued full body twitching is completely wrecking me. And the speed with which the weakness is spreading and worsening is alarming to me. 6 months ago, I had an annoying twitch. Now I'm starting to have difficulty doing normal things. And so far doctors cant give me any answers at all.

 

[Bestfriends14]

No, I've not seen ALS progress or present in this manner at all. I doubt you would find folks that know ALS who has.

Good luck with your neuro appointment. Come back and update once you have seen him or her. Take good care

 

[BlueSkies21]

Hello, I'm back with an update and asking for some advice. Since the last time I was here, I took your previous advice and saw an internist. Unfortunately she agrees that this appears to be neurological. I saw my current neurologist again, and she basically told me she has no idea what's going on, and told me to schedule an appointment with a Neuromuscular clinic. I sought advice from a different neurologist, same result. She recommended I seek an appointment at a Mayo clinic.

At this point, the weakness and stiffness is really making normal activity hard. It takes alot of energy to raise my arms or to walk around much. Holding small items (like a fork) is tricky because my hands shake when I try to. Every movement I make feels jagged and every muscle I have is shaky and weak. I'm about to run out of leave time at my job, and I will soon lose my career. I'm getting pretty desperate for some answers.

So, I am awaiting a call from Mayo in Rochester to get me scheduled. I've never done anything like this before, can someone give me advice on what to expect? Rochester is in another state for me, so going there is going to be a big deal. When I go, will they be able to run tests all at once and figure out what is going on? Or will I have an initial appointment, and then have to come back multiple times for testing? I'm trying to figure out anything I can do to figure out what is going on as soon as I possibly can.

 

[Nikki J]

Some people get all their tests in one visit. It depends on what is needed and what availability is on any given day/ week Read the important post called getting a diagnosis near the top of this subforum. They will presumably want your records sent but I would also bring copies of everything tests and notes and discs for any imaging. organize and familiarize yourself with everything, write a concise summary/ timeline snd prepare carefully what you are going to say

 

[lgelb]

Just because someone mentioned Mayo doesn't mean you can't stay in Cali for a second opinion. You can still go to Mayo or somewhere East if you need to later. There are great neuromuscular centers in LA and SF. Here is a map. Traveling that far except as a last resort, in a pandemic, seems like a lot.

 

[BlueSkies21]

Igelb, I forgot my profile showed me in CA. That was just a generic answer I put in when I signed up for the forum. I honestly didn't expect to be here long enough for it to matter. I actually live in CO. And every doctor I've had experience with so far doesnt seem to know what's going on, and worse, they dont seem to really care. I am tired of dealing with local doctors and I just want to see someone that can actually figure out what's going on, so I figured I might as well just go straight to the best.