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BlueTrain

Member
Joined
Jun 8, 2015
Messages
25
Reason
PALS
Diagnosis
01/2016
Country
CA
State
Maritimes
City
LC
Mod note: this member's journey has caused much concern among those worried about ALS. It is extremely important to note that his initial clinical exam was very abnormal ( far more so than brisk reflexes alone which can be normal). It was clear from the start that he had upper motor neuron disease. This, if it is not found to have another cause, can progress to ALS. His situation is very different from those of you with a normal clinical exam to back up the normal EMG. It is also different from those of you with localized findings


Hi everyone,

I have been a visitor on this Forum for several months, and this is my first post. I read the sticky and have a pretty good handle on most of the key concepts.

By way of background, I am a 30 year-old male and, aside from what I am about to describe, I have always been a very healthy and physically fit individual. My symptoms started in June of last year with pain in both of my hips. At the time I chalked it up to a minor lower back injury from a few years ago which flares up from time-to-time. My legs were also mildly stiff, which was more annoying than anything – I could still walk, run, golf and get from point A to point B with little difficulty. I was lifting weights 4 to 5 times per week and did not notice anything out of the ordinary as far as my workouts were concerned.

In late September, 2014, however, my symptoms began to change quite suddenly. While working in my back yard one morning, I noticed that my legs were weak and uncoordinated. I had trouble planting my feet and my gait was generally unsteady. A few days later I experienced a painful burning sensation in both of my legs, causing weakness and fatigue, and I had trouble standing upright for long periods of time. These symptoms lasted for approximately two weeks. My left bicep began to twitch around the same time.

Although I knew something was wrong, the twitching really didn’t concern me. In 2013, my left bicep twitched while fighting off a viral infection. I recall casually Googling my symptoms and (not surprisingly) ALS was one of the first returned search results. I was fairly certain that I was not dealing with ALS so I did not give it much thought. The twitching stopped after a few weeks when I recovered from the illness.

This time, however, the twitching did not stop and it quickly spread to my right bicep, shoulders, abdomen, back and legs. As well, in late October, my legs became very stiff and painful and I was having trouble walking. I finally decided to see my family physician when I realized that I wasn’t dealing with a run-of-the-mill viral infection. I also began to experience various sensory and other symptoms which are typically not consistent with MND. At this point I assumed I was dealing with an intense autoimmune post-viral response or possibly MS.

I saw a general neurologist in early December who noted bilateral ankle clonus, brisk patellar reflexes and a cross adductor response. He observed no clinical weakness and performed a very basic EMG, the results of which were normal. He also ordered an MRI of my head, neck and spine and asked to see me again in early January. When I returned after Christmas, he indicated that my MRI did not reveal any lesions or plaques. He performed a second EMG which did not detect fibrillations or other signs to indicate ALS. Given the unusual nature of my symptoms, my file was referred to a reputable neuromuscular specialist who is the head of the regional ALS clinic.

I saw the neuromuscular specialist in mid-March and was subject to a very detailed clinical exam. He noted no clinical weakness or muscle atrophy, but confirmed bilateral ankle clonus, very brisk knee reflexes, brisk arm reflexes, increased tone in my legs and a spastic gait. He also observed diffuse and constant fasciculations in various muscle groups, primarily in my shoulders and arms. He too was unable to provide me a diagnosis and scheduled a third EMG and a lumbar puncture for early April. I also had a bunch of additional bloodwork done for various autoimmune conditions and other rare disorders. Although ALS could not be ruled out, he did concede that it would be a very unusual presentation of the illness.

The April EMG was extremely thorough and, with the exception of the fasciculations, the results were normal. At the end of April the neurologist’s office confirmed that the spinal tap and bloodwork all came back normal as well. I should also mention that my other bloodwork has been unremarkable and I have tested negative for Lyme disease.

I had a follow-up appointment with the neuromuscular neurologist at the beginning of this month and I have still not received a diagnosis. He commented that although he does not believe my symptoms have progressed since my initial consultation in March, he is unable to rule out ALS and will continue to monitor my condition. He did indicate that I may have a complicated form of hereditary spastic paraplegia, although I have not yet undergone any genetic testing.

Overall, my mobility has declined sharply since the onset of my symptoms. My legs are stiff and hyper-reflexive, which makes it very difficult to walk and maintain my balance. I’ve had a number of pretty bad falls lately, including one in my parents’ driveway (in front of my mother - very embarrassing!) and one while walking down the stairs. I’ve been working from home since March on account of my poor mobility, which is a bit frustrating as I’m a workaholic and I just can’t seem to get into the zone, so to speak. The fasciculations are also continuous and persistent. At any given time I experience between 5-15 twitches per second all over my body – they are most constant in my biceps, triceps and shoulders, although I also have them in my face, wrists, hands, forearms, back, chest, ribs, legs, feet and abdomen. I’ve also felt them in my tongue. They’re often accompanied by an intense burning pain and/or muscle cramping. Despite this, however, my core strength remains good and I have maintained most of my muscle bulk, despite not having exercised for several months. As well, I have not yet experienced any speech or swallowing problems.

I apologize for the long-winded post. Upon reflection, I realize that it may not serve much of a purpose. I am grateful that I have not been diagnosed with ALS, and although it remains a possibility, I really don’t expect you to be able to tell me one way or another. Perhaps I just want to introduce myself and say hello. I am a bit unclear about the posting rules, but I am happy to stay in the DIHALS section until I have something more concrete – at this point I can only say that I have some weird UMN dominant condition affecting mainly my legs/possible complicated HSP, with wide-spread fasciculations. Unfortunately (or fortunately, depending on how you look at it), that’s all I have to go on for now!

Kind regards,
Thomas
 
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Nikki J

Moderator
Joined
Mar 22, 2012
Messages
9,112
Reason
PALS
Diagnosis
04/2014
Country
US
State
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City
Boston
Hi Thomas sorry for all you are going through. I hope they figure it out for you.
As you have guessed the undiagnosed are asked to stay in DIHALS. If you get to a point where it is HSP or a provisional diagnosis of PLS there is a subforum for that. (i think you are not quite there? Or are you?). If you have not browsed that subforum you might wish to as it sounds like you will see similar issues to yours
Best of luck
 

BlueTrain

Member
Joined
Jun 8, 2015
Messages
25
Reason
PALS
Diagnosis
01/2016
Country
CA
State
Maritimes
City
LC
Hi Nikki,
You’re right - no provisional/differential diagnosis yet. I’ll check back in when I have more information.
Thanks for your help.
Best,
Thomas
 
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