Please Help

[unsure]

Hi there,

My description is somewhat long, but I will try to be as abbreviated as possible. I am a 25-year-old female, and my symptoms began about a year ago when I started experiencing uncontrollable muscle jerks all over my body, all throughout the day. This was accompanied by an aching pain behind my right eye, and some blurred vision along with dizziness. After about 3 months, the symptoms subsided. About 6 months after the symptoms subsided, they returned again. This time I visited my General Practitioner who sent me for an MRI of my sinuses and of my brain. The sinus MRI showed nothing significant, but the brain scan showed 3 "non-specific minimal punctate foci of T2/FLAIR hyperintensity, two in the periventricular white matter adjacent to the posterior horns of the lateral ventricles, and one at the inferior left frontal lobe." Based on these results, my GP wanted to test for Lyme Disease first, before testing for Multiple Sclerosis. The first blood test came back inconclusive for Lyme, so another test was done which he said showed acute Lyme Disease. (I was also diagnosed with cluster headaches at this time). However, I was not convinced of this diagnosis as I do not recall ever being bitten by a tick or having flu-like symptoms in the recent past. I visited two other Infectious Disease specialists who ran two seperate blood tests, both which came back NEGATIVE for Lyme. Blood tests were also done for Lupus, and a number of other diseases, all of which were negative. I then visited a Neurologist for MS. He did not see anything overly-alarming in my brain scan or in the clinical tests that he did, and told me to come back in 6 months for a follow-up MRI.

Here is where my ALS worries come in...In the month or so since I visited the Neurologist, my muscle twitches have worsened and I have developed a significant weakness in my left leg; it feels like jello. Whenever I rise from a sitting position I almost fall over. I am also experiencing a flurry of muscle twitches and fasculations in this leg which have started to move to my other leg as well, constantly throughout the day. It feels as though I have worms crawling underneath my legs. In addition, I am now feeling these muscle fasculations in my neck, face, lips, tongue, and throat. I also feel as if there is a lump in my throat. I occasionally will feel tingling in my hands and feet, and I will sometimes have foot cramps in the left foot.

This has been a complete medical mystery for me and I am very frustrated. I do not even know what my next step should be, as I feel like I have had almost every test performed, all which showed nothing aside from the brain scan. I know ALS can take years to diagnose, but I am hoping that you can tell me from your experience whether my case sounds like possible bulbar onset, or something else. I appreciate any insight.

Best,
Carol

 

[crystalkk]

Carol,

Have you callled the nuero to let him know things have gotten worse and you have new symptoms.
All those symptoms can be Lyme disease It is very hard to diagnosed through bloodwork.

 

[Moonmark]

Hi Carol,

did you see a specialist for MS, or a general neurologist? If you did not see a neuro who specializes in MS, I would suggest doing so. There are additional tests that you can have, in addition to the MRI, that would help to determine if MS is the problem. I am being evaluated for progressive muscle weakness, twitching, and other symptoms at a teaching hospital, by a neuro specializing in both MS and neuromuscular disorders.

You can have a lumbar puncture (spinal tap) that will show whether you have an elevated amount of certain proteins, which is indicative of MS. I believe analysis of spinal fluid also can detect other problems, such as Lyme and other tick-borne diseases, as well as other illnesses. They can also conduct tests such as visual evoked potentials (which I just had done) to assess how effectively messages are traveling along the nerve pathways between the brain and the eye. The neuro should also be checking you for optic neuritis (swelling of the optic nerve), which also is suggestive of MS. I think, also, in the case of MS, drs. want to observe you over time to see if symptoms disappear and then come back, which happens with that disease.

good luck to you.

Sandra

 

[unsure]

twitch locations

Thank you both for your replies. I believe the neuro I saw does specialize in neuromuscular disorders, but I do plan on following up with him sooner than 6 months from now for more testing. I assume the next steps, from what I have read, would be a lumbar puncture and an EMG. Can anyone here tell me how painful these procedures are? I have heard mixed reviews.

I think the root of my fear is not the muscle twitches themselves, but the location of the twitches. The fact that I have developed these twitches in my face, tongue, and throat is what concerns me, as these seem to be locations primarily associated with ALS. Can anyone who has been diagnosed with ALS give some insight into their bulbar onset experiences?

Carol

 

[BethU]

Hi, Carol ... it doesn't sound anything like bulbar onset ALS to me. I've never heard of twitches in the throat. Generally, the rule is weakness and atrophy appear before any twitching.

My bulbar started with slurred speech followed by difficulty swallowing about nine months later. Turns out I had fasics in my tongue but had never noticed them and still have never been able to feel them. It was an ENT who noticed the fasics and put it together with my slurred speech and sent me to a neuro. My fasics were actually not "twitches" in any sense of the word. The tongue itself didn't move at all. The fasics were miniscule quivers all over the surface of my tongue, which you could only see when my tongue was at rest in my mouth with a flashlight. (Believe me, I looked!)

From what I have read online (during the year or so I was trying to find ANYTHING other than ALS it could be) benign tongue fasciculations are as common as benign twitches elsewhere in the body. A very large percentage of the human race experience unexplained benign twitching at some point in their lives. Sometimes stress and/or anxiety contribute to them, sometimes (I think) overusing the muscles contributes, and sometimes there's just no explanation.

My rule of thumb from reading lots of messages from worried people is that the more noticeable and intense the twitching, the LESS LIKELY it is to be ALS. Most twitches in ALS appear later in the disease and are fairly small. I can see and feel them in my larger muscles (biceps, thighs, etc), but have never been able to feel them in smaller muscles.

 

[lawson1012]

This is for Beth. Thank you for all of your well versed insight. I wanted to put my case to you and ask your opinion. A little background. I'm a 34 year old mother of 4, hypothyroid currently going through several major life stressors (move, house selling/buying, living with in laws, etc). That all started two months ago along with several anxiety symptoms. Twitching all over, cheek, neck,stomach, legs, feet, arms, shoulders, and most recently tongue. I feel as if my tongue is swollen and have the scalloping along the edges. Because of my twitching and my grandfathers death due to bulbar ALS I was recently checked by a neurologist. Although he did not notice any twitching on my body he did note a fasiculations on tip area of my tongue. I've had no slurring or swallowing issues and he did not note anything irregular with my exam but said I had the beginning of bulbar ALS because twitches on the tongue are highly indicative. What are your thoughts as I am devastated.

 

[joelc]

I know you want Beth to answer and she will, but in the meantime I thought I would through my 2 cents in.

Twitches on your tongue are not indicative of anything. Lots of people have these type of twitches and don't have any problems and never get ALS.
Twitches are not used to diagnose any type of ALS.

Try not to worry as that can cause more twitches which will cause you further anxiety.

 

[brooksea]

lawson,

Did you have an EMG and all the other tests done by this neuro you saw? It would be highly irresponsible of him/her to assume you have ALS just by looking at you and your tongue!

Oh- I just read your other posts. What an A-hole that doc is! Find one that is an ALS specialist, especially since your grandfather had ALS. Most general neuros do not know a thing about ALS.

 

[lawson1012]

Thank you both for replying.
As far as the neurologist appt goes i don't think I will be seeing another one anytime soon. When he looked at my tongue he had me stick it all the way out and hold it there for a long time before he noticed any movement which naturally a tongue cant hold still forever. I've since read that you are supposed to look at the tongue at rest in the mouth for twitches. As I have severe anxieties, especially health related and I tend to grasp onto one fatal disease or another at a time (which all of my recent life stressors causing me to have twitches all over and my grandfather didn't help) I have since been put on anxiety and anti depressant medicine to see if that helps the twitches go away which it has for the most part. Now, that said, the rest of my neuro exam went fine and I am not slurring my words nor do I have trouble swallowing liquids or solids and I have no weakness. Should any of that change I will definitely seek out a good neurologist who will do more investigating before handing out a death sentence. I've since called his nurse to see what he wrote in his report and there was no mention of his stating that it could be beginning ALS and that there were no significant issues noted at this time so I think he realized his mistake. Thanks for listening.