29 Years old unknown MND. Is it ALS/PMA/MMN?

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08PT13

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Hello everyone, this is going to be a long thread. I wanted to share my complete story because I genuinely feel I went through a lot of emotional, physical and financial stress the last one year.


I am originally from India, lived there for almost 22 years. Before 2013 I underwent ACL reconstruction surgeries in India on both my knees and till 2013, I used to be 240 pounds and was never into in any fitness. I have varicose vein in left leg after my left knee all surgery. In 2013 I moved to US and I decided to start focussing on myself and pushed myself to do exercise and healthy food habits. End of 2014 I hit my goal of 180 pounds and my life became fresh. From 2015 to Jan 2019, I never had any health issues and travelled a lot, in fact in 2018 I did close to 250 miles of hiking across many national parks.

So, beginning Jan 2019, I started having heaviness/gnawing pain in my right lateral ankle daily like 3-4 hours, there was no swelling or difficulty in movement. I did the RISE, spray and patch treatment it never went away. I was in Toronto at that time, I noticed I couldn't walk more than a mile with my winter boots. In April 2019, I took a long flight to India from Toronto, for the first time I noticed prolonged sitting triggered a paresthesia (burning) sensation on my right leg. I was worried and immediately met my ortho doctor in Chennai. We did MRI and Xray of my right ankle and both my knees (I asked for them as I wanted check if my knees had any arthritis). The reports were normal, he advised me that prolonged sitting could cause paresthesia sometimes, don't worry just continue being active. I found the paresthesia reoccurring when during my return flight. Starting May 2019, Toronto summer, I switched back to my active lifestyle, even did my first hike. The ankle gnawing was still there, but I just continued to be myself. July 2019, when I noticed right thighs/quadriceps had wasting. I was worried, the last time I saw something like this was post ACL surgery. Also, the paraesthesia started happening more often, like when I sit for more than 30-40 mins at work. Beginning august, I couldn't do my regular morning cardio as I started feeling my right knee also weak (no pain) and not able to keep up with my left leg.

Finally in August 2019, I decided to go meet my doctor in Canada. I found a family doctor and she wanted to rule out if its vascular issue and asked me to get ultrasound. The reports were normal, she referred me to a sports physician who reviewed me and felt the thigh wasting wasn't significant. He suggested it could be sensory neuropathy and asked me to stop sitting longer and use standup desks(which I was already using). For the ankle, he suggested ultrasound guided steroid injection. Early September , I noticed I couldn't sleep on my back (I was always a back sleeper) for more than 10-15 mins, the paresthesia will happen on my right glutei region. I also had difficulty to do squats. I went back to sports physician and he did his examination and asked me if I had radiating pain when he raised my right leg and I said no. He was still convinced that it has to be S1 radiculopathy and referred me to do an EMG test. He also prescribed me Lyrica.

End of September I moved back to Austin, Texas. I went straight to a spine surgeon (because google and the sports physician told me radiculopathy has to be my disc, so meet a spine specialist). The surgeon preferred to do a Lumbar MRI, which was unremarkable. After discussing with the surgeon, I stopped taking Lyrica as it didn't help me at all. He referred me to meet my first neurologist and also do Physical therapy. My first neurologist was based out of Austin, she conducted my first EMG and NCS. Based on her examination, NCS was unremarkable and EMG showed active and chronic denervation as concluded as root compression. She said, the surgeon will not look into me because the MRI was unremarkable and suggested me to meet a pain management doctor and also continue my physical therapy. After 6 weeks of Physical therapy, no improvement I met a pain doctor with whom I took steroid injection in my S1, Piriformis and Sacro-Illiac joint. 2020 arrived, with no improvement, I started noticing muscle wasting on my glutes as well and I started having pain in my right neck, right elbow and right wrist. My pain doctor suggested to do Cervical MRI and CT Myelogram for lumbar. Cervical was unremarkable and CT had some intrusion in my L4 disc. This led to my next steroid injection at my L4, which as expected didnt give any relief. I did almost 16 weeks of PT, my physcial therapist found no improvement in my muscle wasting or symptoms. She asked me to meet an experienced Physical therapist from UT Austin. This experienced PT reviewed me and asked me to stop wasting your time with pain or spine doctor and immediately meet a good neurologist and rheumatologist. I decided to go and meet an experienced neurologist in Houston who again reviewed my reports and was shocked by the right quadriceps wasting but still said didn't redo the EMG/NCS on my request. She instead referred me to an experienced pain doctor in Houston, who again wanted to try another steroid injection.

It was last week of Feb 2020, my parents who are still based out of India were worried. As I was mentally and physically affected, the right leg weakness and paresthesia affected my social life too. They persuaded me to fly to India and get diagnosed. I met my family doctor in Austin, who actually supported the travel to India as I could get EMG/Immune blood tests sooner, but he also warned me to not get any surgery as he found no structural problems. I came to India in the first week of march, met an renowned neurologist. He listened to my history, symptoms and examined me. He did his first EMG and noticed abnormalities. He explained to me that I could have neuron disease or myositis or both. He referred me to a renowned national institute in India for neurosciences. I went to the institute, they admitted me in the hospital for 4 days, I underwent repeated NCS studies, blood tests, MRI Neurography (MRN), ultrasound and Holter monitoring. Everything was normal except my NCS studies. NCS studies showed mild decrease in SNAPs and prolonged latencies in F-waves. They tried to map my condition to all curable/treatable disease but there was no evidence. Th team of doctors(including students) told me I have come too early and they can't fit me to a known disease/disorder. They told me to continue just the physical therapy and wait for the disease to progress. I was disappointed, the COVID situation made me to stay back in India, I spoke with two of my friends in UWash who are doctors in a different field and they were inclined with the opinion and asked me to read a book specific to the neurological disease. After reading that book, I went back to doctors in the last week of May and asked them if they could conduct genetic testing to rule out familial neuron diseases, conduct CSF tests to see if my protein levels are normal and conduct anti-GM1 and anti-CASPR blood tests. CSF proteins level were normal, Genetic and antibodies were negative.

Now, in the last week of June have more symptoms, I have fasciculations, wasting in my right calf muscles, minimal wasting in right shoulders and arms. Also my left knee and right elbow has one spot where I could feel the bones, like the muscle just disappeared. My right leg is neither flaccid nor stiff, all the doctors and therapist who have met have said my muscle wasting hasn't made my leg so weak but the gnawing pain in right ankle, knee, elbow, wrist and neck have not stopped. I also get occasional right sided headache. I am taking only gabapentin, which I believe gives me some relief in the parasthesia. I try to be active by doing my PT and walking 2-3 miles a day (obviously with pain).

I know I have some form of MND with some sensory involvement (parasthesia), but not sure if its ALS. I have decided to not meet anymore doctors in India, as I know I am not going to get any new answers immediately. My plan is to meet Dr Cornblath in John Hopkins but the COVID situation has made this impossible now. I also welcome suggestions for good ALS/PMA doctors in Texas.

Thanks a lot for reading this far, I am looking for support and friends in this forum. Like my picture, positivity is the only thing I keep with me these days.
 

Nikki J

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Do you have the report from your last emg? If so please post with your name removed. If not you need to get copies of all your tests as any neurologist seeing you will want them.

it is not at all clear that you have any mnd As far as I can see after your last emg you were told you “ could” have “ neuron disease” or myositis. They do not look the same on emg so that statement is confusing
 

08PT13

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Nikki, I agree with you on Myositis and Neuron disease confusion. The neurologist who said myositis could be a reason was not based on my EMG rather on physical examinations. Like I said he is renowned and old neurologist who doesnt meet many patients. I met him through family contacts and he just cited it as a possibility and wanted me to go to the national institute instead.

Please find the attached images of my EMG(Oct 2019), NCS(Oct2019) and NCS(May 2020). I have other reports in big booklets, haven't made a soft copy yet, will do it soon. Thanks for your quick reply.
 

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KarenNWendyn

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I’m sorry you are going through all this and still no answers.

You have quite a few sensory symptoms that point away from ALS. It sounds like you are limited more by pain than by muscles not working. I don’t believe your EMG is diagnostic of a motor neuron disease.

I think meeting with a neuromuscular specialist sounds like a great plan.
 

Clearwater AL

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At the bottom of any EMG report there is a "Summary/Conclusion" where the
Neurologist states his/her opinion of the findings.

Can you post that?
 

08PT13

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@KarenNWendy, Thanks for your reply.

As you mentioned, No doctor has called it ALS because of zero UMN symptoms, no slurred speech or foot drop. My muscles not working is also limiting me a lot, example post the CSF test I had to take rest for a week which made me difficult to push my blanket with my right leg as I did not do my regular strengthening exercises. These exercises have not reduced the atrophy or improved the strength, but they just help me to do my walks. Its just a hope I have that by doing walks and exercises I could reverse this.

Maybe I should do an EMG again, In India doctors prefer NCS over EMG, I asked them why but their response was not convincing. I can probably try asking again.

Also, please let me know if you know any good neuromuscular specialist in the US I could meet. A major motivation for me to join in this forum is to get know doctors who are really good at this.
 

08PT13

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@Clearwater AL, Please find the attached EMG summary/impressions.
 

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Nikki J

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The emg as Karen ( and the summary say) doesn’t really look like ALS. The big name in ALS in Texas would be Dr Stanley Appel in Houston but I don’t think he is seeing in person visits now as he is elderly and at risk. However, if on review of records you were accepted you could perhaps have in person with his colleagues and a virtual visit with him. Their ALS assessments are usually a 3 day event though sometimes less if they quickly rule it out.

there are of course other neuromuscular doctors in Texas.
 

08PT13

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Thanks for all the quick replies, I thought I will just share some more details about the muscle wasting,
  • R vs L Lower 1/3rd - 2 inches difference
  • R vs L Middle 1/3rd - 1.5 inches difference.
Most of the wasting is on the lateral side. Attaching an image of my muscle loss and some twitching videos. The twitching happens every where all limbs, gluteals and shoulder blades.
 

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08PT13

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@Nikki J Appreciate your response. Interestingly the second neurologist I met in the US was from Houston Methodist and she suggested meeting the pain management. Will try contacting Dr Stanley Appel.

Just to clarify, do you think this could be PMA?
 

Nikki J

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i honestly don’t see ALS or PMA or PLS. Doubt MMN. but if you get to see the Appel team they will be able to tell you if there is any MND and hopefully direct you to the appropriate place
 
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