How common is upper motor neuron onset?

[robc]

Hi everyone,

I'm thinking that I'm at the end of the line in terms of ruling things out that might mimic ALS & am probably lucky if I end up with a PLS diagnosis, but I suspect it may end up being ALS.

My question is, has anyone here with ALS had an onset similar to mine, with upper motor neuron symptoms coming first.

I'm 35 years old & had originally started seeing doctors a couple years ago for exercise intolerance problems, which doctors now believe is due to some sort of metabolic disease unrelated to my motor neuron disease.

About a year ago, doctors noticed brisk knee reflexes & have since found hoffman's reflex, jaw reflex, and brisk arm reflexes. I am having trouble standing or walking for more than 10 minutes or so at a time (my legs start to feel heavy, weak & this seems to trigger more spasticity). No bulbar symptoms, no sensory problems. My gait is slow & akward I guess due to the spasticity.

Around February of this year I started to develop twitches (short burst pulses of my muscles everywhere - arms, legs, trunk, butt, etc). They last between 1 second and 20 seconds. Back in February I'd maybe have a couple an hour, now I have 20-30 an hour. The twitches are not painful, but I worry about them representing denervation.

To me, it seems like the loss of function in my legs is relatively quick (most of this has developed over the last 8 months).

I did have a biopsy back in December that showed fiber type grouping, some polygonal atrophic fibers & some mild lipid content. No other abnormalities.

I don't have any visual indication of atrophy & my short burst strength remains very good. I've had a little bit of trouble opening jars or plastic packaging, but not much. I just can't sustain strength very long.. my legs start to get weak when walking, arms start to get weak when using a manual wheelchair (I use a power chair now).

I keep reading that ALS is supposed to be painless, but I find posts from people that seem to have pain with spasticity, so I'm guessing that while many people don't have pain, some do.

I'm at the Cleveland Clinic this week & they're doing genetic testing for HSP & today I'm having a much more thorough EMG than I've had before (theirs takes 2 hours, vs the 5 minute EMGs I've had before).

So back to my original question. Has anyone here with ALS had an onset similar to mine with upper motor neuron symptoms at the onset (spasticity, pain, brisk reflexes) instead of lower motor neuron symptoms (atrophy)? And I guess one more question - is there anything else left to rule out besides PLS & HSP that would cause upper motor neuron reflexes, spasticity, & twitches?

I've had normal Brain & Spine MRIs, normal somatosensory evoked potentials, normal CK & CBC levels, normal vitamin E, B, copper (borderline normal), MMA, HLTV, HIV, normal spinal tap (just very slightly elevated protein level), abnormal lactate (too low with exercise), slightly abnormal EMG back in January (small motor unit potentials, slight increased turns).

Thanks a bunch!

-Rob

 

[jojoj]

I am sorry about your symptoms

What do you mean by spasticity...where do you feel it and is it giving you pain?
You likely need an EMG in the muscles with twitching.

 

[CindyM]

Hi Rob-welcome to the forum.. I, too, hope they find something other than ALS. Please keep us informed. Regards, Cindy

 

[robc]

Thanks Cindy..

Well, my EMG today & NCV test were completely normal. Everyone says I definitely have motor neuron disease (brisk knee & arm reflexes, hoffman's reflexes, jaw reflex), and spasticity. So at this point I think we're assuming PLS, or HSP, or Non-Hereditary Spastic Paraparesis/Paraplegia (waiting for results of HSP genetic testing).

I guess I'm a mystery though in that I also seem to have a metabolic disease. Both OHSU & Cleveland Clinic seem to think that this is separate from the motor neuron disease.

So I think the plan is going to be to repeat EMGs for the next few years to rule out ALS & try to identify what metabolic disease is also affecting me.

I do have lots of twitches though (20-30 an hour) - everywhere, although slightly more frequent on my left side. I need to understand more about twitches, denervation & the relationship or lack of relationship to lower motor neuron disease.. if anyone can point me in the direction of info on this, I would appreciate it.

Thanks!

-Rob

 

[liz]

Rob -

No where but here could that be considered good news. I hope you find answers and treatment soon. Best wishes to you.

Liz

 

[orhideus]

Traditional Chinese Medicine?

Hello!

My name is Chip and my father has been diagnosed with ALS at a clinic from Graz, Austria, being currently under Rilutek treatment.


Of course, I used all my networking tools (friends, friends of friends, LinkedIn etc.) to find out more about it and opinions are controversial: some say it's ok and famous, others say they make money from foreigners.

If you have any certain information on this hospital, please let me know.

Thanks.

Chip

 

[CindyM]

Hi Chip- I decided to allow this link because it does not promote any one clinic or hospital. But I doubt you will get much information from our members here. ALS is still (as of 3/23/08) an incurable disease and most people decide to use their money to make wonderful memories with their families. The treatment might make him feel better but there is a big difference between treatment and a cure.

If my son spent lots of his hard-earned money on something that may or may not make me feel better, I'd be mad. I'd much rather take my grandchildren on a great trip. That would really make me feel good!

 

[siuska]

From my own experience.....my doctor thought at first that i had a metabolic muscle disorder
this is a list i know he checked for...

lactate dehydrogenase deficiency
myoadenylate deaminase deficiency
phosphofructokinase deficiency (Tarui's disease)
phosphoglycerate kinase deficiency
phosphoglycerate mutase deficiency
phosphorylase deficiency (McArdle's disease)
so, you see? there are a lot of metabolic muscle diseases...you might get your lab tests and make sure you were checked for all of these...
he also checked me for heavy metals and lyme disease.
i know he was able to tell me within a month whether i had metabolic muscle disorders based on blood tests...
any of these disorders can cause twitching, cramping, stiffness which improves when resting...

my emg also showed large mups, fibillations and i had atrophy...they decided i had peripheral neuropathy which i guess also causes pain and twitching and exercise intolerance...
but, since i have it body-wide now, i am being sent to a rheumotologist to get checked for CFS/fibro which causes all this stuff to happen also...(incidently CFS can cause low lactic acid levels)

My doctor sent me to physical therapy and it did improve my endurance and strength (not pain or stiffness) to the point where i could go back and work, but i am still having trouble and only work part-time under a work restriction... i guess what i am trying to say is that what you are suffering from could be anything and it's frustrating when your life stops and no answers come...while i am still trying to get the answers and hopefully solutions, i have found that getting pro-active really helped me (PT/OT). i can't really respond to your query of spasitity, i really don't know to what symptoms you are referring to...

i don't know when ALS shows up on an EMG, but i think if you are having trouble walking then there should be some sort of data to that effect on the EMG...
Hang in there and i know, from many people on this forum have had to go to several doctors before a diagnosis could be made...it seems as if it is providence and luck that many of us finally find a doc who knows what's wrong....and, hopefully, can treat it so we can pick up and go make money and have fun again....

 

[siuska]

sorry Rob,
i was blah-blah-blahing..