Could this be ALS?

[miejajoy]

Hi All,

I first want to say thank you for your time and for any responses or guidance you may provide. It has been almost a year since I have wanted to post but it's not until now that I have finally given in to my growing concerns.

I am a 58 year-old woman who has been struggling greatly with some new health issues over the last few years. Though I have had some minor health challenges throughout my adult life, with some modifications, I have lived a full life. I have always struggled with my response to exercise, flu vaccines, antibiotics, dental work, pregnancy, minor illnesses, etc. My body gets so weak and my muscles so exhausted that I need to lay low until I very slowly improve. BUT, it was always a general body weakness...not isolated muscle weakness. Things have changed over the last year or so.

Between 2019-2021 ALS was never on my radar. As my symptoms progressed and new ones developed I became concerned. Please accept my apologies for the insanely long post. Some or all of the information may not be relevant but everyone's experience varies and so I thought it would be best to give a complete picture/background information.

In early 2019, I became suddenly sick with a flu-like illness that took weeks to feel slight improvement but never really came back to my "normal". Also, developed severe intolerance to any alcohol at all...not a sip.

*June 2019: This is basically when my health began to spiral downward. Tooth extraction...felt lousy but ok. Week later attended a wedding (no alcohol consumed) and danced all night until I was forced to stop when my muscles began to ache and I felt abnormally fatigued and sick where I had to leave and it was difficult to walk to my car. Woke up next morning feeling queasy and nauseous...lasted for months. Exhaustion was indescribable...literally sapped of energy.

July 2019: Sudden quick uncomfortable sensation in upper stomach area that wrapped around my right side. hard to describe but very uncomfortable. This feeling over months spread throughout my entire body...horrible nerve sensations inside (not burning skin) that can best be described as hitting my "funny bone" and feeling it throughout my body. My nights were unbearable and I was desperate for relief. Additionally, I was struggling with muscle aching in my feet, struggling to walk, ONLY upon waking. Exhaustion and fatigue unbearable.

2020:

• Reactivation of Epstein Barr Virus...not past infection but an acute infection...very sick.
• Positive ANA and Anti DS DNA; low cortisol levels; High cholesterol;
• Few rounds of steroids and did find some improvement from nerve pain and increased energy.

2021:

• Skin biopsy: Positive for small fiber neuropathy. Nerve fiber density reduced by 81% distally. Other autonomic testing denied by insurance.
• Medical leave: nerve sensations brutal; fatigue indescribable; unable to maintain daily functioning.
• March-April- 1st time feeling isolated muscle weakness was after Covid Vaccines: few days following 1st vaccine felt weakness in right hand when using cell phone. Few days later felt strange feeling of weakness in upper throat/oropharngeal area...no trouble swallowing. Weak feeling always lingering, though.
• Positive for Asialo-GM 1, G/M Antibody: Level 266 (standard range 0-50) Neuro says: immune mediated neuropathy. Candidate for IvIG
• Feeling of Weakness in right hand, legs, and occasional issues with forming words. Cannot walk too far due to muscle fatigue/severe lack of energy.
• Brain MRI: rare white matter T2hypointensities frontal lobe. Neuro not concerned.
• IVIG treatments begin. Seemed to help nerve sensations but muscle fatigue and tightness in legs worsened (swallowing function issues begin, handwriting changes slightly). Halted treatment temporarily in December.
• Hospitalized for sudden heart rhythm issue and long qt interval. Doctor believed it was due to nortriptyline so it was discontinued.

2022

• Barium Swallow Study: Normal (swallowing issues have progressed since this test)
• EMG/NCS: Abnormal study due to right wrist median neuropathy as seen in carpal tunnel. Muscle twitching developed about month after this test.
• Esophageal Manometry: 40% ineffective swallows (13% failed, 27% ineffective) Incomplete clearance in 20% fluid boluses of wet swallows. Poor peristaltic reserve. Abnormal/impaired response to multiple rapid swallows. Normal relaxation and peristalsis
• Spinal Tap: Slightly high protein in CSF. 3 Identical Gamma Restriction Bands seen in both CSF and serum. Rules out MS but can be indicative of systemic illness or connective tissue disease.
• MUSK antibody and Acetylcholine Receptor Binding Antibody to r/o MG...both negative. Prescribed Mestinon it doesn't seem to be working. Neuro exploring reason for swallowing issues/orophyrangeal weakness. Orders another Asialo GM 1 Antibody test that had been elevated at 266 last spring.
• Developed constant chronic muscle twitching throughout body. Not painful, just minor electrical pulses.
• Developed exhausting excess saliva issue
• The heart rhythm issue is progressing and cardiologist says I need ablation.

Today I received my latest blood test results: Asialo GM1 Antibody levels are now 1<3200 (reference range 1<100). This just adds to my growing concern.

Lastly: My muscle strength is normal on clinical exam but I feel weakness in right hand/wrist and lower right leg. My tongue, throat, soft palate, and lips are so fatigued they literally ache...all the time. My lips feel like they are quivering. Sometimes, I have trouble forming words when I get tired. I have had issues with food being stuck in my chest and coughing consistently after eating and drinking. This has changed though and become the chronic throat and orofacial fatigue and lip quivering. I am unable to walk even a short distance as my legs are so fatigued and muscles tight, I feel like I will collapse. I have had random large muscle jerking as I fall asleep and sometimes when I am awake and sedentary. Some RLS at times, as well. I have random yet recently frequent facial flushing on cheeks. There are many times that my body feels like it is being pushed down and literally filled with cement...so heavy and paralyzing and it's hard to describe. This whole journey started with the horrendous nerve sensations and now muscle issues are at the forefront. I never feel well at all, but the swallowing issues, severe orofacial fatigue, muscle tightness and fatigue, and new constant muscle twitching throughout body are frightening me terribly.


I appreciate and respect your thoughts, your time, and your honesty. Thank you so very much.

 

[Nikki J]

Is there something wrong? Yes it sounds like there is and probably multifactorial. does it add up to ALS? Highly unlikely

where ae you being seen? Who is your neurologist? We have great doctors in MA so you should find someone you trust at one of the medical centers and let them work through your problems

 

[miejajoy]

Hi,
Thank you. I agree about the great docs in MA and as you can tell I am being followed by doctors (Boston) who are doing the necessary tests. TBH, once the orofacial issues and muscle twitches began, and have progressed, I am getting very anxious. My doctors aren't sure about the bulbar issues and it kind of heightened my concern. Was curious if chronic orofacial fatigue, as in 24/7 is a symptom or if it is something that happens only when swallowing...if that makes sense. I am also concerned about the antibody test and if that is at all an indication. Haven't communicated with doctor about that yet since the results are new.

Thank you so much for your response. I appreciate your time and will continue to work with my doctors.

 

[lgelb]

Agreed, no reason to think about ALS, which the EMG was negative for, but you should be seen at a specialty center. As noted, the GM1 elevation and your issues correspond with a motor/sensory neuropathy that might be primary or secondary to a systemic illness, but not motor neuron disease.

Best,
Laurie

 

[miejajoy]

Thank you, Laurie. Systemic illness and resulting nerve/muscle issues has always been my thought relative to my symptoms and declining health. The EMG however said there was no evidence of a "large fiber polyneuropathy or myopathy", so I thought it was ruled out. I appreciate and respect your time and response.

 

[lgelb]

Feel free to post the de-identified report.

 

[miejajoy]

Hi,
I have attached the report as you suggested. As you can see, it only is abnormal due to right wrist neuropathy. Thank you, again for explaining this to me and for your patience. I hope I did this right...

 

[lgelb]

Right, sorry I misread your earlier post. No evidence of large fiber neuropathy or myopathy, or motor neuron disease, all of which is good news.

 

[miejajoy]

Thank you, again.

 

[miejajoy]

Hi Again,
So I received a call from my doctor tonight regarding my highly elevated Asialo GM 1 IGG antibody results. As noted above, the reference range is 1<I00 and mine is 1<3200. He would like to repeat the EMG and do it himself. I am wondering if ALS and Motor / polyneuropathies can be distinguished from one another on EMG? Do they look the same? Also, if ALS is a progressive disease couldn't a very real FEELING of weakness be an early sign of ALS before progressing to a true weakness? Couldn't the severe muscle fatigue and my other symptoms just be the start or early symptoms of ALS? That I just haven't progressed to complete loss of some muscles? My right limb muscles are very fatigued, the twitching is consistent throughout my body (hands and feet too), and the orofacial fatigue continues along with excess saliva. My EMG was only 2 months ago yet he wants to repeat it. I am a bit freaked out about it. I have also heard and read that EMGs are usually normal in ALS. Is this actually true? So much conflicting information out there, it becomes confusing and unnerving. I'm so very unwell and things just seem to be progressing so quickly over the last few months. Thank you again for your responses.

 

[lgelb]

No, they do not look the same on EMG.

A feeling of weakness is not a typical ALS onset pattern, because the hallmark issue is not being able to do things because muscles no longer are under your control. Feelings of weakness are typically not precursors -- it's "failing, not feeling." ALS isn't like being tired or sick -- it's being unable to do things you were able to do easily before.

So the third answer is no. The fourth is no. The fifth is emphatically no. Stop reading, keep living, wait and see what the EMG shows.