50 years old, symptoms since fall 2020

McBee

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I am a 50-year-old female, and have been reading information on this site through most of 2021. I would really appreciate any insights.

As with so many I've seen on these and other forums, my concerns began with muscle twitching. After six months on a plan towards personal health improvement and intentional weight loss (~25 pounds) I noticed a few small twitches in my lower right abdomen in early October 2020.

Almost two months later following a very stressful time (was under observation for pancreatic cancer and was cleared), I noticed a twitch in my lower left thigh. Note that the original twitching began when I was not particularly stressed (other than the “normal” stress of 2020 and a loved one perishing to Covid). I went to my Nurse Practitioner who said this was out of her area of expertise and recommended a neurology appointment.

Following a visit in December 2020 where I had a normal clinical examination, I had an NCS/EMG performed in January 2021 with normal findings. This gave me relief but other symptoms then began – body-wide fasciculations, lip/jaw shaking, cramping/burning in the spot where the twitching began, a left hand tremor, myoclonic jerks when "at rest" during the day, jaw clench when falling asleep, difficulty standing in place, and noticeable tremors in legs when crossed. This went on for several months, and much of it has subsided. I also had every blood test imaginable, and an MRI, all with normal findings.

Some months ago, I began to have feelings of weakness in my arms, especially when going to sleep and upon waking, sometimes so much so that I only got relief from a heating pad. The weakness/heaviness would alternate between my upper arms and forearms. Again, this has largely subsided (but returns now and then), but I am wondering if it is due to my stopping any activity that might tax my arms (e.g. hand weights). I’m generally “taking it easy” except for walking for exercise.

Over the past 10+ months, I have seen five neurologists, including the Medical Directors at the ALS Clinics at University of Chicago and another ALS-Association-Affiliated Clinic. I have been diagnosed with Benign Fasciculation Syndrome, suspected hypermobility, and essential tremor. I recently had a 6-month follow-up NCS/EMG, with normal findings.

Current situation: my left-hand tremor is fairly consistent, and my thumbs on both hands tremor largely with normal tasks such as typing, food preparation, and driving. My hands appear very bony (concerns about intrinsic atrophy) and my wrists smaller. I have some difficulty manipulating my phone and other small tasks. My movements – especially those of my arms – have been “slow” for some time. After being “twitch-free” for many months, a hot spot returned in my calf, where the twitching is now different – it’s not quick and quite visible, but a more subtle, constant twitch that looks like the muscle is pulsing or “breathing.” My legs get very tired when standing after only a short time. I do not have balance or walking issues, but I must almost “concentrate” when I’m standing for any length of time – even at my counter at home. I also have visible dents in my right leg near the ankle and under the knee, where the twitching returned.

I have been in therapy for anxiety for several months. I have gained back 10 of the 25 pounds I lost. I am hesitant to be in situations where I need to stand for periods of time for fear that my legs will give out.

You hear about cases of clean EMGs in early disease. I understand that fasciculations are LMN, which should show up on EMG (fascics have not been recorded on any of my EMGs). In appointments, I do not show any clinical signs of disease beyond conditions listed above (negative for Babinski and Hoffman’s, normal strength, normal reflexes, etc.). Yet I experience my arms and legs as having weakness. I feel like something is being missed. I want to be reassured by the EMGs, but I don’t know what to make of the lingering symptoms – can weakness and clean EMGs co-exist in ALS?
 

Nikki J

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People with upper motor neuron disease can have weakness and normal emgs. However they will have upper motor neurons signs and clinical weakness on exam. You have normal exams so this is not you. Five neurologist of which at least 2 were neuromuscular specialists all said no ALS.

if you feel the diagnoses you have been given do not explain your symptoms ( many with bfs complain of perceived weakness and fatigue) I suggest you return to your pcp NP and if she still feels it is out of her area of expertise to explain the symptoms that you do not attribute to your diagnoses ask to be referred to an MD internist
 

lgelb

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If you have "suspected hypermobility," I would also ask if you should be evaluated by a medical geneticist to rule out connective tissue disorders (that can be inherited or acquired via mutation) such as Ehlers-Danlos and Marfan, that can manifest with hypermobility, atrophy and weakness. But I agree that it sounds like ALS is no longer on the table.

Best,
Laurie
 

McBee

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Thank you, Nikki and Laurie, for the replies. Unfortunately when I saw my MD at the practice months he just referred to the other doctors’ notes and suggested anxiety meds. I am scheduled with a functional medicine practice, and am hoping they explore my symptoms further. I really appreciate you both taking the time with me.
 

Nikki J

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Please be careful. There are good hearted functional medicine practitioners but there are also those who prey on desperate people. There are also those who are misguided.

good luck
 

lgelb

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Agreed, would find a Board - certified internist (MD or DO) you can work with.
 

McBee

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I had extensive/non-traditional bloodwork done, and I had an abnormal result (high) for Transforming Growth Factor Beta 1 (TGFB1). Result was 3060 with a range of 344-2382 pg/mL. Also had a low result for CD57+/CD3-/CD8- lymphoctyes - result was 0%. Does anyone have any experience with these types of results?
 

lgelb

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If you're asking if they're related to ALS, the answer's no. And if you're asking what they do relate to, not only is the list long, but there may not be any illness at all. I encourage you to follow up with your [traditional] primary care doc.
 
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