Dysphagia, Loss of Function

[OhMomof3]

I can't believe I am even posting here.

I will start from the beginning- about 2 years ago I began experiencing random difficulties with swallowing. I just can't explain how strange it was. It was as if the muscles just stopped being able to initiate swallowing,but only momentarily. It was so brief. Then curiously, I would have episodes during the day where I would start to drool from my mouth seemingly out of nowhere. While eating, I have poor control of the bolus(food falls out of my mouth) and notice sometimes food sticks around the gumline, sticks in throat and coughing/clearing throat after swallowing water or fine food particles (ground meat, rice). I have a poor lip seal around cups and bottles and often notice the beverage spills out of my mouth.

I then started having body wide fasciculations affecting both sides of my body, predominantly affecting my proximal muscles as well as facial muscles- lips, chin, tongue. Cramping in my abdomen, and then in both my legs (at same time) and hands bilaterally, usually after moderate use. I noticed difficulties with wearing footwear- I can't hold slippers on my feet. Once, when walking across a busy intersection a sandal slipped off my right foot in the middle of the street!

I saw a general neurologist who performed the cursory neurological exam and was normal, but he did comment I have tongue fasciculations. I wanted a second opinion as shortly after that examination I began experiencing difficulty with grasping things (pulling my blanket up in the middle of the night, for example the blanket would slip from my grip, and feels like it weighs 100 pounds). I saw a neuromuscular specialist who then recommended an EMG, Brain MRI(normal), boatload of tests(thyroid, Creatine Kinase, Electrolytes, B12, Magnesium-all normal) and this was completed in January 2019.

EMG was performed on the right side arms, shoulder and legs -only where I perceived the most weakness. No bulbar muscles were tested. Why not? I don't know. The NM doc knew I had swallowing issues. EMG was largely normal EXCEPT for one muscle- the abductor halluscis, and this indicated modest chronic neurogenic changes, but they deemed the clinical significance was unclear at that time. I was not told to follow up or repeat the EMG.

Shortly after the EMG I was having more swallowing issues that led to an ER visit. They felt it was possibly related to GERD and gave me a shot of a steroid called Decadron, which exacerbated the issue and I was unable to swallow or drink anything for several hours. It was so strange and terrifying at the same time.

Since 2019 there has been continued progressive changes to speech- my speech slurs noticeably when I speak for longer than a few sentences. My "s" sound sounds like "th". I am a counselor, as such I speak to patients all day. Sometimes my words come out garbled, or out of order. It's like I can't coordinate my tongue and lips. I am constantly having patients ask me "what?"

During a telephone call with a friend she asked if I had started drinking something because my speech was slow and slurred. I bite my tongue when I eat or talk. A GI specialist who performed a scope noted a "sluggish tongue" when I spoke and was concerned and sent me (finally) for a Modified Barium Swallow(MBS) in May 2020 and results indicate I have tongue base weakness and oropharyngeal phase dysphagia with residue pooling in the valleculae and pyriform sinus. The MBS did not show any signs of aspiration at that time and recommended normal diet, thankfully.

I was told to follow up with Speech Pathology, who assessed my speech as normal at the time. But, it was a 15 minute consultation which consisted of stick out tongue, resist against her hand being pushed against my neck, etc. She felt that *if* it was something sinister the neuros back in 2019 *should* have found it. I am not in any way dismissing the neurologists, I felt they performed very comprehensive exams.

Loss of functionality: 2 months ago I noticed I am unable to open twist off bottles of wine, or those twist off caps for applesauce/fruit squeeze pouches. For the life of me I do not have the strength in my wrist or fingers to twist. It's not that I feel weak when I do it, I just can't. And deodorant sticks. The kind that requires you to twist/click them, I have had to change brands to one that doesn't require an effortful movement of wrist. When I brush my hair I have to take breaks. I can only blow dry my hair sitting down because 1) can't stand for a long time without having to brace up against something and 2) I can't raise my arms up for a length of time to finish blow drying.

I also have a side to side tremor in my fingers from time time. Its very infrequent. My thumbs twitch to the point they move back and forth rapidly.

Note I have no sensory issues. No numbness, tingling.

As an aside, I also saw my optometrist who diagnosed me with eye convergence insufficiency and noted that I have weak extra-ocular eye muscles and recommended prisms glasses. I don't know if this is related? I don't have double vision. I also in the last 6 months have been diagnosed with Gastroparesis, a condition in which my stomach empties very slowly- I know not ALS related, at least I don't think. But another strange issue affecting my functioning. I guess it's common to diabetics, but I don't have diabetes.

I am not tripping and falling, but I notice my right foot frequently scuffs the ground from time to time. I am also walking much slower than usual. I trail behind my husband and kids now, when they were the ones who couldn't keep up with me! When I try to run, my feet feel slippery and unsteady. I tried going to the gym to strengthen and condition, thinking maybe I am just getting old and out of shape but I am very intolerant to exercise.

I work with a computer all day charting notes, and notice that I am often unconsciously holding up my head with my hand, or prop my elbow on my desk to support my head with my hands. Forget typing, I can't coordinate my fingers to accurately press the right key! The thing is my neck doesn't *feel* weak, it just is.

I am so perplexed. I am not sure where to turn. I am frightened because whatever is going on seems to be slowish (for now)- which I will take. But just not sure if any of this presentation sounds familiar or ALS related. Maybe I should request another EMG? Could this be ALS?

 

[lgelb]

There are slow-ish motor neuropathies and neuronopathies, but some are treatable to an extent, so it would be good to see if you have something that is.

At this point, I would consider the Cleveland Clinic since I see it's about an hour from you -- even if an in-person consult is not in the cards, they do video. They could look at your last EMG, and clinical findings since, and suggest the path forward. The possibility of a myopathy rather than a neurogenic disorder may suggest other testing before a repeat EMG.

Best,
Laurie

 

[OhMomof3]

Thank you. My EMG was actually done at the CCF by a neurologist who actually specializes in Neuropathies- Dr Shields!
I do want to add one more tidbit I forgot, but unsure if it is relevant to me. I have two relatives on my father's side who were afflicted with an unknown neurodegenerative illness that led to them being paralyzed over a 25 year + period. Unable to walk, use arms, but could speak in a whispering/slurred tone and also one was able to eat normally (that we could see) One relative died due to choking @ 49. Her speech was unintelligble. At one point she was able to drive with modified hand controls. The other died due to breast cancer (the mother) at 62. Both presented in their mid teens with neuropathy and numbness, and lead to weak muscles. I believe my aunt fell in her late 40s, broke her arm and stopped walking after that. I remember being a child and watching her "walk the wall' to get to a chair, where she sat and succumbed to this mystery illness most of my life. They were believed to have had MS. Both diagnosed in the s1960's and late 1970's respectively (and probably the last time either of them went to a neuro). One had issues with walking around 20's to 30s and slowly progressed to loss of use of all muscles. The thing is, neither of them sought routine medical treatment-one refused drs and the other believed they had Lyme disease (this was never confirmed). The thing is, my father is alive and in his 70s with no known neurological disorders. So if it's autosomal dominant I would believe he would have the same issues as them.
I consulted with my PCP a few weeks ago and he suggested genetic testing to find out if their affliction has anything to do with what I have going on. He does not think they had MS based on their presentation and how they progressed-but who knows! I actually see a genetic counselor on Monday. But it would be unusual for ALS to progress over a 20+ year span? For both of them? And what is a myopathy?