Could it be anything other than ALS

Unfortunately it is still a waiting game with me.

Things have progressed slightly with the weakness and hand atrophy. My GP says he still doesn't think it is ALS but with no other answers it is still a possibility and he wants another EMG in a few months. So I went from no ALS to we don't think it is ALS but have no answer.

Really sucks I've been super worried too and it's affecting my daily life

No I haven't heard anything. At our last meeting he said to come back if something stopped working. He said he doesn't think it is ALS and has no explanation for what is going on. It's been about 19 months and the symptoms are still there but are starting to calm down slightly. I haven't gotten any weaker. My right leg had become slightly thinner then the left but it was larger before this started. For now I seem to just have to wait for it to get better or worse.

My main issues at the moment are mostly on my right side. My arm and leg get tired fast and I have occasional large powerful twitches in arms, legs, glutes and abdomen. I have smaller twitches in my feet and a ticking/pulling feeling in my left heel. I get repetItive twitching too where a muscle will twitch almost non stop for about 1 or 2 days then it will stop and another body part will have the same thing a week or two later. I also have lots of floaters in my visual field that worsen in bright light and when I'm tired.

It is unfortunate and frustrating that the doctors can't figure out what is going on and they have taken the stance that we just have to wait and see. So for now I try to keep my anxiety over this issue at a minimum and spend time with my family taking it one day at a time. I will agree with what your radialogist said about googling and worrying, it makes things worse - for me this amplified my twitching greatly. It is tough to try and forget when your muscles are twitching like crazy but it is necessary to try and it will help manage the symptoms.

I try to get good rest, eat clean and keep busy.

If it is something like ALS or MS it will eventually show and you wouldn't want to look back and and realize that your worry held you hostage while you were still able to live and do things. Did you have an EMG? What were the results? I did and it didn't show anything concerning. This helped me deal with the thought that I may just have to come to terms with what's happening and learn to live with it. I still worry about it but the longer I can still walk, talk and do things with my girls the easier it gets. I wish you all the best and I hope you figure out what it is.

Yah I agree Sean. .The less I think about it the less twitching I have. But my main concern is I start IVs..and its embarrassing when my hands start to tremor. .I haven't had an emg test...The dr didn't think I needed one but I said I want one asap. So it's coming up...I did her the Arm that twitches 8 months ago but he doesn't think that's it. So it's been an ongoing night mare.....

Hi Scott, did you have the global metabolic panel done?

Hi Lorraine,

Yes I did have the study done.

For the results, 2 is normal and anything <> than 2 is mentionable.  The metabolite alpha-Ketoglutarate is associated witth energy and probably a sign of mitochondrial dysfunction.  On the 2nd smaller image, N-acetylmethionine "Methionine is a dietary indispensable amino acid required for normal growth and development of humans, other mammals, and avian species. In addition to being a substrate for protein synthesis, it is an intermediate in transmethylation reactions, serving as the major methyl group donor in vivo, including the methyl groups for DNA and RNA intermediates" found at http://www.hmdb.ca/metabolites/HMDB11745.

On the face of the results it appears that I have a depletion of N-acetylmethionine.  

I don't have a diagnosis yet however both myself and my Genetic Pathologist believe it is a Mitochondrial Dysfunction that involves the production of energy.

As myself and may others have noted a significan symptom is muscle pain in various areas.

What I would like everyone to do it notice two things when they are experiencing is IF you are mobile and feeling pain stop what you are doing for a few moments then see if the pain is reduced or not present when you rerstart the activity.

What happens or could be happening to many is that the dysfunction prevents at times the conversion of fat stores into energy for our muscles.  I've had times where I would have periods of muscle pain long after an activity.  If you start seeing coffee colored urine then there is significan damage to the liver.  It could very well be that for most there isn't a sustained significance and the liver can process.

Rhombosis wwould be the name:  Rhabdomyolysis is a condition in which damaged skeletal muscle breaks down rapidly. Symptoms may include muscle pains, weakness, vomiting, and confusion. There may be tea-colored urine or an irregular heartbeat.

However this may not always be active and the skelatal muscle breaks itself down for energy just enough to cause pain but enough to signal Rhombosis

My muscle twitches started before 2001 and gradually progressed to different muscle groups and are evident over my whole body.  The muscle pain and the muscle twitches & muscle wasting may not be related.  However, the area that I have had the muscle twitches the longest is an area that I have the worst muscle wasting.

Mitochondrial Dysfunction can be found on the following site  https://www.umdf.org/what-is-mitochondrial-disease/

Quite often a process or chain has many steps.  If one is damaged or irregular it might effect everything down the chain after it.

The very first DNA test I had was one for energy production where they found a defect in the AMPD1 gene.  https://ghr.nlm.nih.gov/gene/AMPD1

"The AMPD1 gene provides instructions for producing an enzyme called adenosine monophosphate (AMP) deaminase. This enzyme is found in the muscles used for movement (skeletal muscles), where it plays a role in producing energy. Specifically, during physical activity, this enzyme converts a molecule called adenosine monophosphate (AMP) to a molecule called inosine monophosphate (IMP) as part of a process called the purine nucleotide cycle. This cycle reuses molecules called purines, which are a group of building blocks of DNA (nucleotides), its chemical cousin RNA, and molecules such as AMP that serve as energy sources in the cell. As part of the purine nucleotide cycle, AMP deaminase converts AMP to IMP, and as the cycle continues, molecules are produced that the muscle cells can use for energy. Skeletal muscle cells need energy to function and move the body"

Sorry to hear about your father. Have your symptoms gotten any worse?

K - my symptoms are so similar to yours. Have you found any answers? I'm suffering with no improvement for 3 months now.

Hi Lorraine, thank you for your condolence. My symptoms haven't really gotten noticeably worse but they haven't improved either. I go to the gym 3-4 times a week and I have been trying to build muscle to essentially rule out ALS and unfortunately and frustratingly I haven't seemed to have gained much strength in areas where I used to gain strength relatively quickly. The most frustrating thing about the whole thing is doctors just don't seem to take me seriously with the concerns since I'm only 25 and am prone to anxiety.

Hi Laura, sorry to hear you're going through something similar. I haven't found any answers unfortunately other than trying to stay positive, keep my mind off of it, stay healthy, and get my anxiety treated. The good news for you is that it's very unlikely in ALS that you'd be experiencing all these symptoms together after only 3 months. How old are you if I may ask and do you have any family history of neurological issues?

I'm almost 31. No previous history of anxiety - though these symptoms are really enough to drive anyone around the twist!

No family history of ALS. I have a cousin who was diagnosed with MS about 2 years ago now, after she lost her vison temporarily.

My swallow has gotten so bad in the last week or so. Yesterday, I felt my first musle ripple in my neck/ throat and am worried it's connected to the swallow issues.

Last couple of days also I've noticed a tremor in my hands. The shake gets particularly bad if I'm lifting a pot whilst cooking etc.

I've had a EMG done on my legs (75% of my musle rippling/ popping goes on in my right leg) bit results not until June.

I had a voice test and the diagnosis was "Dysphonia - Edema of Vocal Chords", swallow test also but need to follow up with ENT also in June for that.

I understand it's a rare disease and my age makes it even less likely that I have ALS - however I am struggling to find what else it could be.

Hope you're doing ok after the passing of your father, K.

Hi Laura, I'm sorry about what you're going through as I know how terrible it can be. How long have your symptoms been going on and are there any breaks in the twitching or swallowing issues? Are there days where the symptoms stop or feel improved?

Also, I'd say because your cousin has MS and MS is more common than ALS, it's much, much more likely to be MS than ALS, however the odds are still greatly in your favor that it is nothing at all as MS is not directly hereditary.

Hi K.  I know exactly what you are going through.  My Dad passed away from MND in February 2017.  Since his diagnosis in April 2016, I began twitching all over.  Completely paranoid and convinced that I had the start of MND (we don't know whether my Dad had the hereditery form of MND as he never knew his father).  I (imagined) that I couldn't swallow, had weakness, couldn't speak properly etc. etc.  My symptons changed from week to week.  My anxiety was way out of control worrying about my Dad, and worrying about myself as well as feeling guilty about feeling like that when I should be worrying about my Dad.  It's now a few months since he died and I still twitch like mad (all over), and constantly test my muscles for strength etc.  It's awful and I wish I could just stop and get on with my life.  I also execrise a lot (spinning) and I worry that I may bring on this horrible diseease by over exercise. I've sort of resigned myself to the fact that I'm probably going to be like this for the forseeable future.  I think once you've seen someone (I attended MND clinic with my Dad so I have seen lots) with this disease it's so easy to think/imagine the same will happen to you, and it's a terrifying thought.  There's not a day goes by where I don't think about it, and I even plan out in my head what I'm going to do it I do get it. Sorry I can't be of any help but I just wanted to let you know that you're not the only one who feels like you do.                       

It's difficult to say how long I've truly been having symptoms - everything definitely didn't happen at once, but the "progression" seems to have ramped up in the past two months. I recall the fatigue setting in back in February. Swallow and voice issues followed. Then the twitching, and everything else.

With respect to the "twitching" - in my leg - it's not constant but some twitches are much more powerful than others. And those powerful ones are increasing in frequency.

Through out the rest of my body it's very intermittent. For example I don't think I've had a twitch on my chin for a couple of days now.

The tremor on my right (dominant hand) is much worse than on the left.

If I try to do a little exercise like a Zumba class - when I'm holding out my right leg, it will shake uncontrollably after 10 seconds or so - so I just put it back down. I can still raise it though?

So confused.

Hi Laura.

There are over 20 forms of ALS. I am genetically pre disposed to ALS 19. Here's a link you might find interesting.

Moderator comment: I have removed the link(s) directing to site(s) unsuitable for inclusion in the forums. If users want this information please use the Private Message service to request the details.

http://patient.uservoice.com/knowledgebase/articles/398316-adding-links-to-posts

http://patient.uservoice.com/knowledgebase/articles/398331-private-messages

Thanks, Scott.

You've had your symptoms a number of years now, correct? Do you continue to steadily decline, or wld you say youve plateaued?

What concerns me most is the lack of improvement in symptoms such as my hoarse voice and difficulty swallowing. The ENT seems to have no answers.  

My symptoms started in 2001 with muscle twitching in right forearm. From there it gradually moved up arm then to shoulder, opposite shoulder them chest and legs.

2011 I started to have exercise in tolerance. Pushed a lawn mower 50 and my arms and chest would feel as though I had been lifted weights all day. Walking up a flight of stairs would make my legs feel like I had ran a marathon.

I don't think muscle pain started until 2014/15. I think mainly in my legs and wouldn't matter of I was mobile or sitting. One Sept to Dec period I had so much pain I could not exercise at all.

I have a NordicTrack elliptical that I was doing 5 miles/day, then 6 and since this past Jan....7. I do have periods where my legs don't feel like they have energy, I'll stop for a moment and get back on and it feels as though I am starting fresh.

I think for the past year or so I would think that the majority of symptoms have been in remission for lack of a better term.

I am not diagnosed with ALS and am being checked yearly.

The reason why the life expectancy is so short after diagnosis is that it take a very long to rule everything out.

Scott,

When you say twitching, can you actually see the muscle move?

I can't see mine, and in general I can only feel them when I've clothes on. Weird?

I can see some in my tongue - I think - though it's hard to independently judge tongue twitches. I can still move my tongue left, right, up, down etc so taking some comfort in that.

What I can see with my own eyes is an actual movement in my legs - like if I'm resting a plate on my thigh it will move rhythmically - almost like a pulse.

When I cross my legs - the leg on top still moves (?) - a gentle little bop up and down. It's almost like a vibration or a tremor.

I'm so terrible at describing things, sorry.

No worries Laura. Twitches or muscle Fasciculations as the medical community can be seen. They were visible all the way back in 2001.

Stay as active as you can be when the symptoms are minor so you don't lose any muscle.

Also note that when you become hyper aware of your body as I know I have from these symptoms, it's easy to mistake an actual pulse as fasciculations if you're not used to observing a pulse in that area. If it's a rhythmic and constant pulsing in your leg that you only see if you're resting something on top of your leg it may be from your actual pulse.

K, you're right, there's no doubt I've been super aware of every little thing lately (even questioning my seemingly frequent burps) but the pulsing movement is in addition / separate to the muscle bubbling / rippling.

My next set of follow up appointments w/ ENT & neurologist can't come quick enough.

Good luck with your follow ups.

Quick question, Scott. Did you ever have an abnormal EMG? I had an EMG in both legs (below the knee) at my last neuro appointment, completed by a technician and I know it's not going to be "normal" so to speak because the technician enquired whether I was having back pain. When I said not particularly he said that's what the EMG was indicating. "Maybe a pinched nerve". I know I don't have any pinched nerves as the lumbar spine MRI didn't shown that. Is this a bad sign? Is an abnormal EMG the writing on the wall?

Sorry - 6 more days to wait for neuro follow up. The waiting is killer!!!

Meanwhile my back is twitching away goodo as I type!!

I've had quite a few. I had a disc removed in my neck, replaced a fused. I've had bi lateral carpal tunnel as well. 4 Neurologists ago ordered an emg which showed ulnar nerve entrapment. I declined surgery for my elbow and last year same emg and no ulnar nerve issue at all.

Not really anything unusual or I should say unexpected other than the twitches show up on the emg now and so far are benign.

I'm so sorry to hear about your dad. My brother passed from ALS in 2006 at the age of 39. We have no prior history of the disease in the family, but I started having twitching in late April.

Started in my left eye, moved to the right eye, and now it's all over my body. I can't say that I have any clinical weakness- maybe perceived weakness, but I am TERRIFIED.

My neurologist did a strength test and that was fine. He wants me to have an MRI and an EMG.

We always assumed my brother's diagnosis was sporadic. He was in the military and was exposed to 4.5 tons of urea without proper protective gear. He began experiencing symptoms 1.5 weeks later.

Help!! Could this be genetic?!

It is possible that the ALS your brother had is genetic.

I have the gene associated with ALS 19 to which I have no symptoms yet. I have had twitches since 2001. Started in right hand/forearm and now are throughout my body.

Just wondering. If anyone's symptoms stated after an MRI within contrast or have you been tested for heavy metal toxicity?

Hi Angela, I'm very sorry to hear about your brother. Based on what I know about genetics and heredity, it would be extremely, extremely unlikely for you and your brother to both have inherited the disease from your parents if there is no family history. This would require you both to inherit a recessive gene from both of your parents. Because you have no family history; it would have essentially been just as likely for you to both get sporadic ALS, for which the odds are about 1 in a million.

I truly understand how terrifying and difficult it is to not worry, but it is also extremely unusual for the twitching to begin in your eyes and to spread throughout your body within just a couple months. Eye twitching is an extremely common symptom of anxiety, lack of sleep, dehydration, or even caffeine consumption.

I promise that you have no reason to worry if it's just twitching and it's only been since late April. I also know how terrifying it is and I don't want to sound like I am belittling your worries, because I know exactly how you feel.

About the 1 in a million thing.. it would actually be closer to 1 in a billion!

So, as suspected my EMG was not clean. The summary says "chronic right sided L5-S1 polyradiculopathy without active denervation". All issues w right leg musles, left leg is 'normal'. Neuro says this corresponds with a herniated disc in back. I just have a hard time thinking that given all my various symptoms this is a lower back problem. My lower back cant be causing the twitch on the bridge of my nose or the swallow and voice issues. Isnt it a coincidence that they've all come together?  

The neuro was in such a rush i didnt even get to talk to her about the fact that the twiching has now spread. She just wrote me a referral to a physical therapist and said i'll see you again in a month.

Feeling very deflated. Maybe i need to change neuro, but dont want to be going from one doctor to another!!!

I think I am getting close to my 9th Neurologist

Sorry to hear you had a dirty EMG, Laura. luckily they did seem to find a disc issue because usually when one's getting ALS they can't explain the symptoms and so they just refer you for more testing. Unfortunately though with ALS it's just a process of ruling out other diseases while still seeing progression so that explanation will most likely be the best you're gonna get until you either see improvement or worsening of symptoms with physical therapy treatment. Best of luck and stay positive!

My symptoms were all similar to all of yours. I had a muscle biopsy done which confirmed a noninflammatory myopathy.

Hello I am exactly in the same situation as you. I started having fasciculations everywhere when my father was diagnosed. Give me your news ! know how you go 6 months after. thank you