57 year old male bulbar and spinal symptoms. Fear ALS

[philly368]

God bless all of you here who support those of us as we wrestle with uncertainty in pursuit of a diagnosis. I will try to be as succinct as possible while providing enough detail to get an informed opinion. I will say upfront that I am a type a, anxious person by nature and it is possible that stress and anxiety play a role in my situation but my symptoms are significant and a triage nurse at the Mayo clinic in Jacksonville was concerned enough about ALS after a phone interview to accept me for evaluation, which is presently ongoing.

Background info on stress and anxiety: Significant financial stress this year. We stretched ourselves to purchase a 2nd home in Jacksonville at the end of '23, while still carrying a mortgage, took out a home equity loan to fund that and have been unable to sell my GA home as 3 sales have fallen through during due diligence. Lost both of our dogs in April and May after nearly $20K in emergency medical bills... and more. The health stress started shortly thereafter.

Late Feb '24 - Mar/Apr '24: unsure if related but initial symptoms that got me on this journey started after moving my son into his new home and doing a ton of heavy lifting. Initial symptoms were primarily GI related so not sure if they are relevant. Also presented with extremely high diastolic bp.. first time I've ever had high bp. Abdominal pain, primarily in 2 spots every day for 2 months straight. My family Dr. ordered abdominal ultrasound because I have a history of non-alcoholic fatty liver. Ultrasound found a couple cysts and a lesion on my liver.. also an enlarged descending aorta. Doc was concerned enough to order an abdominal MRI and lesion was deemed likely benign. However, my stress level was very high through all of this and the enlarged aorta on the threshold of being considered an aneurism had me very worried. Variety of testing ruled out Celiac, H-pylori etc. Ultimately the GI issues resolved by end of April. Gastro at Mayo later diagnosed my GI issues as adnominal wall nerve irritation based on the my description of the feeling and the specific consistent grape sized spots.

April '24: developed numbness and tingling between 2nd and 3rd digits of both hands and feet (worse on my right hand) to the point I had to shake it out each morning at work but resolved after a week or so. Also being noticing tightness in calves, again bilaterally but more so on right calf. I am right side dominant. Other main symptom was a pulling/tearing sensation primarily in quads and side of upper legs hips. These also resolved in a week or so. By late April tightness spread to both legs (left leg more so) and hamstrings and led to a feeling of spasticity and shakiness that is and remains present when descending stairs or when feet are dorsiflexed. During the last week of April 2 other symptoms presented - pain in my hands, wrists, and ankles (primarily right hand outside of thumb and index finger.. really hurt to hold things like a toothbrush. Also I started to become easily out of breath and heart rate would spike abnormally. Saw a Rheumatologist and a Cardiac doc and had a normal EKG, echo and stress test. All blood work came back normal and ruled out any autoimmune condition. No RA, Rheumatologist refers me to Neurologist.

May '24: Stress level is through the roof now as shakiness and stiffness have spread to hands, primarily right though by now the left is just as stiff and shaky. Shakiness extends to forearms if I am using my fingers to do things like typing. Muscle fasciculations also start and persist to this day.. bilaterally but more so on my dominant right side. Most persistent in calves, and feet but also sporadically other places like biceps, triceps and right hand (pinky side). Very easy to see and feel. Begin getting involuntary muscle jerks while at rest, primarily in bed as I start to drift off. Primarily in extremities but also occasionally full body shiver. This also continues today, to a lesser degree, and is often preceded by me starting to dream that I am going to do something and then my body "does" it.

Was on multiple waiting lists trying to get a neuro appt. I am/was an avid weight lifter and did a fair amount of cardio so I have significant muscle mass. I repeatedly test my strength and to this day and can not say I have lost much if any 1 rep max strength, also can walk on heels, toes, jump etc but muscles in forearms, calves, quads and hamstrings are tight and fatigue easily. Initially I thought I had MS but by Mid May I notice my swallowing has been affected and it feels difficult to control liquids and food at the back of my mouth. Google has me very worried about ALS at this point. Context - I have always had issues with mucous and a feeling of stuff being stuck in my throat and was diagnosed in early 2023 after upper endoscopy with GERD, hiatal hernia and esophageal reflux with some damage to vocal cords including a granuloma. But this feels different.

June '24: Significant pain and stiffness return to both hands, cramping in my fingers, toes and calves begin to wake me at night (1x to 2x a week). Again, bilaterally. The pain is primarily in my index finger and worse on the right side but it's my middle, ring and pinky that don't work the way they used to and where I get cramping. They are the most stiff and make it difficult to move meds or small items around in my hands. Outside of the pain I don't have problems opening bottles. My understanding is ALS often affects the thumb and index finger but outside of the perpetual shaking I perceive those fingers to not have lost any strength or dexterity. If I use a Theragun to "massage my calves or forearms the stiffness and pain goes away temporarily but they tighten up again shortly and the stiffness, loss of dexterity and pain return. At this point I am also experiencing that tearing/pulling type of pain in by quads and upper outer thighs/hips again regularly, esp after sitting or lying down for awhile.

At this point I'll move on to results. Finally see a neurologist of sorts (Dr Luis Vera, board certified chiropractic neurologist and electromyographer ) who is able to do a clinical exam as well as an NCV/EMG. Clinical Exam Summary (I will attach the full report). No clinical weakness - strength 5/5. Deep tendon reflexes active and symmetrically bilateral at +2 everywhere but +3 hype reflexive bilaterally patellar. Babinski, Chaddock, Hoffman, Rossolimo, Oppenheimer, Schaefers, Gordons signs all NOT present. No clonus. Fasciculations visualized on right calf and EDB. NCV/EMG Summary (full report attached) based upon patient's clinical signs and symptoms, coupled with electrophysiological findings he does not exhibit electophysical evidence of pathology. Nerve conduction studies exclude focal monoceuropathy. Sensory responses within normal limits. the next part is verbatim "The needle exam did reveal spontaneous potentials indicative of membrane instability secondary to denervation in the muscles sampled. Thus, there is no detectable electrophysiological evidence of pathology at this time. Clinical correlation is advised and it is recommended that he continue with care as recommended by his provider.

Mayo Clinic:
As mentioned before my symptoms worsen throughout the month (constant shakiness/tremors in hands and forearms, cramping at night and swallowing issues and shortness of breath) and I have the opportunity to be seen at Mayo the week of June 17th and get a variety of tests. I will summarize here and attach full reports where necessary. Blood and Urine Work up all comes back clean including Creatine Kinase, P at 86 (normal range 39 to 308). The test that shows consistency of red blood cell size was slightly abnormal but they weren't concerned. Cervical Spine MRI: mild degenerative changes but no areas of greater than mild canal or foraminal stenosis. Lumbar Spine MRI: unremarkable outside of . L5-S1: Broad-based posterior disc protrusion with right greater than left subarticular component extending into the right foramina. Bilateral Ligamentum flavum thickening and facet joint hypertrophic changes. Severe right subarticular and foraminal stenosis. Moderate left subarticular and foraminal stenosis. Perhaps this is contributing to the issues in my legs. But it would only be my legs correct? Brain MRI with and without contrast: No evidence of acute infarction, acute hemorrhage, or intracranial mass. No abnormal enhancement. There are a few scattered T2 hyperintensities without associated mass effect or reduced diffusion within the subcortical white matter. No hydrocephalus. Vascular flow voids are present where appropriate. Orbits are normal. Mild scattered mucosal thickening is present within the paranasal sinuses. Mastoid air cells are clear. Bones and soft tissues are normal. Mild signal changes within the white matter, which are nonspecific, but can be seen secondary to vascular etiologies (such as minimal chronic small vessel ischemic changes or migraines). From reading my understanding is if ALS shows up on an MRI the scattered T2 hypersensitivities is the signature. Swallow Study with Video and Speech: came back normal - The modified barium swallow study (MBSS) video and recommendations were reviewed with the patient. No penetration of trials, No aspiration of trials. No pharyngeal residue after the swallow. Trials passed through the esophagus, No retrograde flow nor residuals remained in the esophagus. Oral motor abilities were within functional limits. While somewhat reassuring, I do not feel confident swallowing and feel like I lose control of food/liquids at the back 1/3 of the tongue and need to really drive my middle tongue back to initiate swallowing. Jaw and neck muscles always feel fatigued and tired. Hopeful, but doubtful that this is related to the esophageal Gerd damage. Of particular concern was the Pulmonary Function Tests: described as mildly obstructive but frankly it was very close to moderately obstructive. Here is the summary - "Good quality test. Good patient effort. Spirometry shows mild obstruction. Positive bronchodilator response. Normal lung volumes. Normal diffusing capacity. Normal oxygen saturation at rest and with exercise. Mild obstruction with positive bronchodilator response can be consistent with process such as Asthma or reactive airway disease. Referral placed for pulmonology." FEV1/FVC ratios were 54.7 and 62.5 (post albuterol) and again Google says this is consistent with ALS. NCV/EMG: (full report attached) "Nerve conduction study of the bilateral upper limbs, including bilateral median and ulnar palmar studies, revealed an unreliable median F-wave response probably secondary to electrical artifact. The remainder of the nerve conduction study was normal. Concentric needle examination of selected right upper limb, right lower limb, and right thoracic paraspinal muscles revealed very rare fasciculation potentials in the medial gastrocnemius and first dorsal interosseous pedis, but was otherwise normal." "CLINICAL INTERPRETATION: This is a mildly abnormal study. There is sonographic evidence that could be consistent with a median mononeuropathy at the right wrist (as can be seen in carpal tunnel syndrome in the appropriate clinical context). The very rare fasciculation potentials in a couple distal lower limb muscles in the absence of other needle EMG abnormalities are likely to represent a benign process. There is no electrodiagnostic evidence of a length-dependent, large fiber peripheral neuropathy; right cervical radiculopathy; disorder of the motor neurons or their axons; myopathy; or a polyradiculopathy. A. Granger (127 or (78)3-3909).

NERVE CONDUCTIONS
Record Rep Normal Normal Distal Normal F-Wave F-Wave Temp
Nerve Type Site Stim Side Amp Amp CV CV Lat Lat Lat Est (°C)
Fibular Motor EDB R 7.2 (> 2.0) 44 (> 41) 4.3 (< 6.6) 51.5 55.2 30.6
Tibial Motor AH R 8.6 (> 4.0) 47 (> 40) 4.0 (< 6.1) 53.8 52.5 30.7
Sural Sensory Ankle R 9 (> 6.0) 44 (> 40) 4.1 (< 4.5) 30.8
Median Motor APB R 11.3 (> 4.0) 51 (> 48) 3.5 (< 4.5) -0.1 30.2 31.0
Ulnar Motor ADM R 9.3 (> 6.0) 60 (> 51) 2.9 (< 3.6) 28.9 25.6 31.0
Median Sensory Wrist L 103 (> 50.0) (> 56) 1.9 (< 2.3) 30.9
Median Sensory Wrist R 105 (> 50.0) (> 56) 1.8 (< 2.3) 31.2
Median Sensory Dig II R 24 (> 15.0) 57 (> 56) 3.1 (< 3.6) 31.0
Ulnar Sensory Wrist L 16 (> 15.0) (> 55) 1.9 (< 2.3) 31.3
Remark: Moved G1Ulnar Sensory Wrist R 18 (> 15.0) (> 55) 1.8 (< 2.3) 32.7Remark: Moved G1
Ulnar Sensory Dig V R 35 (> 10.0) 62 (> 54) 2.9 (< 3.1) 31.0

NEEDLE EMG
Ins Spont MUP Recruitment Duration Amplitude Phases
Muscle Side Act Fib Fasc Normal Activ Reduced Rapid Long Short High Low %
Turns
First dorsal interosseous R NL 0 0 NL
Pronator teres R NL 0 0 NL
Biceps brachii R NL 0 0 NL
Deltoid (middle) R NL 0 0 NL
Triceps brachii (lateral head) R NL 0 0 NL
T10 paraspinal R NL 0 0 NL
Vastus medialis R NL 0 0 NL
Gastrocnemius (medial head) R NL 0 +/- NL
Tibialis anterior R NL 0 0 NL
First dorsal interosseous (pedis) R NL 0 +/- NL

NERVE ULTRASOUND(Potential) Area Area
Nerve Side Site (mm²) NL Segment Ratio NL Mobility Vascularity Comments
Median R Wrist 14.7 < 12.0 Normal Normal
Median R Forearm 7.1 Wrist - Forearm 2.1 < 2.00

July 8th I meet with Dr. Lamb, an experienced Neurologist and he will have all my test results. I am thankful that I will get an informed opinion but at my age and with my broad symptoms, many of which map to ALS very well I am not feeling any better despite these EMG/NCV results, particularly after the abnormal pulmonary test. I'd feel a lot better if it came back perfectly clean and not mildly abnormal. I also understand (from Google) that at my age a clean EMG isn't as compelling as it would be for the under 50 population.

Any perspective you generous folks would be willing to offer is much appreciated as I try not to lose my mind while waiting.

 

[ShiftKicker]

Hello there-

Sorry you find yourself here and asking about ALS. I will direct you to the Read Before Posting link. In it, it explains why symptoms that come and go, sensory issues (pain, pulling/tearing/shakiness feeling, etc), plus your very extensive list of entirely non neurological symptoms would point in a different direction. Your electrodiagnostic test results and your clinical exams show none of the hallmark indicators of ALS. Your doctors are not concerned about motor neuron disease.

Your googling, though an understandable compulsion, is causing you additional and unnecessary anxiety, and that is unfortunate. I'd advise you wait for your neurologist appointment to access their expertise. In the days running up, you can prepare a list of questions to ask them. I don't recommend steering the conversation to ALS but to ask what your symptoms may point towards.

It is understandable you are feeling anxiety and stress with having unanswered questions, but it is also very clear that your anxiety is runaway right now. I'd recommend you speak with someone qualified who can provide you tools and support to manage that anxiety while you work with your doctors to get to the bottom of your physical symptoms. Anxiety can amplify physical signals, and this may make it harder to pick apart your symptoms to figure out what is going on. It can be a distraction for both yourself and the neurologist and delay conclusions. Please consider.

All the best for your appointment on the 6th. Please do let us know what the neurologist says.

Take care

 

[philly368]

Thank you very much for taking (probably a lot) of your precious time to review my post. I did read the link before posting and wrestled with whether I had the right to post for days. I do understand that many of my symptoms point away but so many of the individuals you all counsel similarly are much younger than I am. I've read so much about how ALS presents differently at my age. I will certainly let you know what the Dr. Lamb says next week. You are 100% right about anxiety and amplification, In fact I considered asking that question because any level of excitement and anxiety sets the tremors off and makes me feel like I'm crawling out of my skin. My primary prescribed Lexapro but I thought it was that that was causing me to feel like that so I stopped after 3 day. Mayo has offered a mental health referral and I will take them up on that.

 

[lgelb]

+1 there is no evidence for ALS. Whatever you think you've read about different presentations at different ages is completely trumped by your test results and medical history. When you feel anxious, I would reread all the reports that justifiably show no concern for neuromuscular disease. What you think you are googling about PFTs and ALS is just 100% misleading in your case. It's like saying a dent in your car means you totalled it.

I would start with counseling and discuss the need, if any, for an SSRI. Like any psychoactive drug, the class has downsides. But if you start one, it will take several weeks to fully work and enable you to see if it's a good thing.

You've described a series of very stressful events, which do your blood pressure no good, which does your dilated aorta/GI tract no good, etc. If you have mild asthma, a possibility suggested by the pulmonary tests, that too has a psychogenic component (stress makes it worse).

I suspect you sleep poorly, which often relates to the jerkiness, etc. A wearable can illuminate roughly how much actual sleep you are getting and in what stages, which could inform your counselor-to-be.

I would reallocate the time spent looking at ALS to addressing the issues that are understandably stressing you out -- what to do about the house, whether repricing it or selling "as is," finding another realtor if yours is not up for the task, etc. These may seem secondary but to me they seem primary.

Stress kills. Nothing else you have been demonstrated as having right now does.

 

[philly368]

Hello everyone. update to my situation.
- I met with the Mayo neurologist on July 8th. He did a thorough clinical and said he was very confident I don’t have a sinister neurological condition. For the most part that made me feel better
- since then:
Positives - fasciculations have decreased significantly. I have begun working out again and regained some strength and muscle mass. I can do hard things! And my stress level is down, sleep is good.
Not Positives - tremors remain in hands. Also both hands and feet are stiff and painful, so is right calf. Dexterity in hands is diminished (can’t manipulate small items like meds well at all). Can temporarily resolve stiffness and pain in hands and feet by using theragun massage on forearms and calves so I’m assuming it’s tightness there that’s causing the finger and feet problems. Also my swallowing has gotten weaker IMO. I require multiple swallows to get food out of the back of my throat if it’s sticky or dry; and constant sensation of phlegm or something not being cleared. I’ve had several situations where something like a sausage casing or potato skin has remained after the swallow and I’ve had to manually grab it or wash it down with liquid. It just doesn’t feel like I’m getting any power in my swallowing.
- had another ENT swallow study done at Mayo on Monday, where they film the swallow with a camera inserted through the nose. It was completely normal (no pooling of secretions, no GERD damage, normal movement of epiglottis, vocal cords etc. minimal if any residue left around trachea. BUT the ENT specialist found one side of my tongue to be weaker (based on a tongue depressor resistance test) but still strong and deviation of my tongue to that same side. She thinks there’s some slight atrophy as well. She sent some pics to the neurologist who agreed with deviation (not the atrophy) and they scheduled an EMG of my tongue for 12th.

My questions 1. Is it possible I have Bulbar onset despite clean EMGs (a month ago). Would they have picked up on it even though they weren’t done on that region? 2. Are the swallowing symptoms I describe consistent with how ALS would present- clean swallow tests but yet trouble initiating the swallow?

Thank you again for offering your time and perspective

 

[lgelb]

No, it does not seem consistent with ALS to show no clinical swallowing deficit but have all the swallowing issues you perceive. It is also reassuring that a Mayo neuro does not appreciate any sinister condition, and it's unlikely with all the issues you cite that a clean EMG will be followed by demonstrated bulbar damage in the next one.

Bear in mind, there are many possibilities here besides neuromuscular disease.