To all those diagnosed, beginning symptoms

[jl73]

Hi,
I am just curious, to everyone who has been diagnosed, did you noticed symptoms well before you were diagnosed? Were you completely functional for a while with these strange symptoms?
I ask because my biggest problem(s) right now seem to be
1) when I get sick-get intense nerve pain with real muscle weakness (I strain to walk down stairs).
2) bladder problems-always feel like I have to go, no matter what, sometimes it "leaks".
3) tight calf muscles, pain when grabbing onto certain objects-it's weird.
4) sleeping probs, excessive mucus, waking up, pain in my back
5) General lack of energy
Doc said getting sick and antidepressants (The older ones) can regulate nerve function.
The sicker I get (flu, whatever) the more physical function I lose.
(I have always had hyper-reactive reflexes even 10 or 15 years ago).
However, on my good days, I can still do a lot, even run or exercise, usually with back pain or fatigue, sometimes not. So no one believes or knows I'm sick with all these random problems, except the docs.
They have ruled out MS. My brain looks great they said.
2,3,4 have happened in the last 5 years. Things that were 5 years ago an annoyance now can sometimes become a real problem for me.

So is it possible to have PLS, have weird stuff for 10 years, then get diagnosed? Does the disease operate in the background like that, like they think Alzheimer's does? I've heard that they think even ALS might be like this, 20 years of hidden changes, then once people get the strange symptoms, they progress faster than PLS. So PLS is the tortoise? ALS is the hare? Biggest change with me is the bladder probs. It also seems like the docs aren't interested in diagnosing me or knowing what's going on, told me to live with the probs.

 

[olly]

honestly if they are your only symptoms for the past 10-15yrs and you can still run/exercise then its unlikely to be pls and definatley not als.

i was a fit healthy running/exercise freak plus single fulltime working mum then one day my legs felt a little stiff and sore..............all hell broke loose after that and its been down hill for 11yrs.
i have a hard time trying to walk there is no way on earth i could run.

the only thing looking back that was noticed by others before the spasticity was that i was more than the usual clumsy..............now i know it was because my reflexes were hyper.

i hope you can find some answers to your problems.

 

[jl73]

My reflexes are definitely hyper-legs. If they tap my knee my leg goes all the way up. The doctors have all commented on that. They can't do a throat culture without me gagging. I can run, but after a while, my legs get so stiff, I have to take days off to recover. I'd say the symptoms have only been around for 5-6 years, definitely not 10. Started with tripping, a few bad falls-bloody palms. I think it might be due to subacute degeneration of the spinal column because I have pernicious anemia. Doctors thought PLS-actually refrained from mentioning the term, only saying it was a motor neuron problem which actually might only affect less than 1,000 people. For a while, I got muscle fascics everywhere, now only rarely. I have no muscle wasting anywhere, so I think ALS shouldn't even be considered.
Can other diseases, infections cause upper motor damage? I'm about 95% certain there's no MS, as the MRI's would've shown that.
They did say in certain people, they have young onset PLS yet live without even knowing it, as the disease for some reason burns itself out. Only after doing autopsy did they find lesions-so there are likely more than the 1000 people, the 1000 being the ones diagnosed who are most severe.
The machines they were using were experimental and much more sensitive than the standard tests used. Only a few research hospitals use the machines as they need a specially designed outlet to run. The machine can stimulate the motor cortex in the brain directly and measure the motor evoked potentials and motor units.

So for people here, you noticed something right away? After that, you were not able to run again? Was it because of the pulling feeling in legs? Right now sitting here, my legs are tight, my left foot feels like it has a muscle cramp, my back and neck ache. Always worse when I get up after sleeping. I've had to gradually scale down my activities. After being awake 4 hours, I'm ready to go to sleep.
I just seem to be all over the place. Sometimes barely able to move, sometimes paralyzed (rarely), most of the time back to normal. First thought it was MS, then ALS, then something else, then PLS. I don't think any of them are right. I haven't been tested for MG yet, another thing to check.

 

[olly]

hi,sorry i was not aware of your full medical history as you never mentioned it in your first post.
having seen your post above then maybe it could be pls but i still dont think its als.

the machine you are talking about is a mrs/magnetic reanasonce spectroscopy.
it evaluates umn dysfunction but it is used mainly to evaluate advanced patients and not to diagnosed as it can be normal in the early stages.
yes,not many hospitals have this machine.

 

[jl73]

Hi, the machine is called an rTMS. It's listed in wikipedia and can help diagnose MS, and motor neuron problems. It takes a lot of current to run however.
I know pernicious anemia can damage nerves, that's well known. 80% of my probs seem related to when I get sick, a lot like M. Gravis. I seriously can't move or wiggle a toe. It's only got that bad a few times, maybe 3-then for less than 8 hours or so.
During these last 5 years, I haven't got much worse, except for the bladder issues-maybe pain in my feet. Even so I can still swim, jog some...etc. do some exercises.
My thinking is there really has been little progression going on. People with ALS don't stay the same, IMHO. Even PLSers lose a little function year to year? I'm young, so maybe it's just the beginning stage? I don't know.
Does PLS affect the spinal column? or just the brain?

 

[Tokahfang]

I have either PLS or Hereditary Spastic Quadriplegia, they are still deciding what to name it.

My spasticity showed itself at age 14, and I had hyper reflexes for at least a year before that. By the time I was 18, I only sometimes needed a cane to walk, but running was out of the question. A year later, long walks were also gone, even with a cane. Another decade has passed by, and the progression speed has varied a lot. I once plateaud for 3 years, and that was awesome!

Upper motor neuron disorders are very individual, so it is hard to say someone definitely doesn't have it. Whatever is damaging yours, though, seems charmedly slow, and I hope it stays that way! Slow progression is good.

 

[Marjorie R. Wilcox]

Your bladder problems and the leaking are red flags to go see a urologist or GP.

 

[AKmom]

jl73 I am interested in how they came up with the diagnosed of pernicious anemia? I had never heard the term "pernicious" so I looked up pernicious anemia. I was suprized at what I found! I have had anemia all my life. Its not that I do not eat well. I basically was born with it. As an infant, they would not let me leave the hospital because I was so anemic. I was on iron suppliments until about the age of 6 and had blood work monthly from the time of birth until 6. Then through the years I have battled with keeping my iron levels at 12. I am always considered low normal when I am doing good. I even had to have a blood transfusion at one point when I have been to less than 6 in the results. Yet no one ever told me about pernicious anemia. It definately would be worth looking into for me as my spastic muscles and tingling and weakness and loss of balance and irregular heartbeat....everything just about that I have been trying to get an answer to could be all due to this pernicious anemia!
Thanks for coming and telling us your history. Never know when our stories may help others find an answer.

 

[olly]

sorry jl73,my mistake i got the spect mixed up with the mrs............well contrary to belief i am not perfect lol

 

[jl73]

Oh, they said it was pernicious because I have no stomach "intrinsic factor" so I can't absorb certain things like b12. Without shots, people died. My iron is fine. It's called Dana syndrome and it's a genetic thing..affects blond norwegians. There's a shilling test that can identify it.
There are various anemia's. Pernicious Anemia is an autosomal dominant one, meaning someone in your immediate family must have it too.

I see a urologist. When I ask him questions, he doesn't say much. I asked him if drugs or the immune system could affect nerves, he said yes.

I don't see much progression at all. Except maybe these last 3 years. I've had terrible pain in my neck and back, so I couldn't move my neck a lot. Now, it's my feet, left foot that feels like I always pulled a muscle. Sometimes I get weakness in my hands when grabbing onto something. I can't read for a long time without closing one eye, or else I get double vision.

My grandma had something happen to her. She couldn't walk for years and years. Had vision probs too. They never diagnosed anything. Eventually she ended up not being able to walk at all, or see, and she was put on a feeding tube and ventilator but she died. They just said it was because she was old, or neurological thing for the eyes, but I didn't buy that. It sounded exactly like HSP:
***
Early in the disease course, there may be mild gait difficulties and stiffness. These symptoms typically slowly progress so that eventually individuals with HSP may require assistance of a cane, walker, or wheelchair. Though the primary features of HSP are progressive lower extremity spasticity and weakness, more complicated forms may be accompanied by other symptoms. These symptoms include conditions that affect the optic nerve and retina of the eye, cataracts, ataxia (lack of muscle coordination), epilepsy, cognitive impairment, peripheral neuropathy, and deafness. The diagnosis of HSP is primarily by neurological examination and testing to rule out other disorders
****

The docs know something is going on, but just said 'it might be something I have to live with' and leave it at that.

 

[Zaphoon]

jl73,

You have probably read that PLS is a progressive disorder involving upper motor neuron death. When the neuron dies, it goes to neuron hell and is not resurrected. The resulting problems (i.e. muscle malfunction) are not reversible. What I mean to say is that once weakness has set in as a result of the neurons being sent all to hell, strength cannot return.

I have a differential of PLS simply because all of the testing done so far has ruled just about all else out. I've had weakness in arms, legs and shoulders but shoulder strength returned (some) and those problems have since been attributed to bilateral frozen shoulder syndrome. I don't know of any bilateral frozen leg syndrome that can be attributed to my leg troubles.

It is possible that you may have a neurological soup cooking (more than one syndrome/disease/disorder at once). There have many instances where a final diagnosis has never been given albeit not because there wasn't enough testing.

Perhaps your doctors will come to a conclusion soon.

It would be nice to know (for planning purposes) if you have something that is going to eventually put you in a wheelchair.

 

[jl73]

Well, that's what they said, I would never know what it was, but they will after an autopsy. And they said I might need a wheelchair.
I hate vagueness. My severe weakness comes after getting sick, but then goes away after three or four days. I still have to work harder than I should on normal days, but I'm not bedridden like when sick. After 4-5 hours of being up, I have to rest-my energy just runs out. I've heard MG can do this. The most annoying thing is having to pee 20 times a day.

 

[rose]

jl73,

Have you had a "repetitive stim" NCV? This can show likely MG even if blood tests, etc did not. Also a single fiber EMG is sensitive enough to find MG. If both of these are normal, then its a sure thing you can cross this off of your list of possibilities as well.

Has immune modulation therapy been tried? i.e. prednisone and/or other suppressants to rule out an inflammatory cause?

 

[Tokahfang]

Well, that's what they said, I would never know what it was, but they will after an autopsy. And they said I might need a wheelchair.
I hate vagueness. My severe weakness comes after getting sick, but then goes away after three or four days. I still have to work harder than I should on normal days, but I'm not bedridden like when sick. After 4-5 hours of being up, I have to rest-my energy just runs out. I've heard MG can do this. The most annoying thing is having to pee 20 times a day.

This fatigue is medicatable. My doctor gave me Provigil for it, and it gave me back my waking hours.

 

[jl73]

Hi,
I have tried prednisone, and a few other IM drugs. I cannot take most drugs b/c of the stuff I am taking will interfere. I also have a pacemaker, so no MRI's. (I can still have CAT and PET scans). I will check out the blood tests. I already have one autoimmune system disorder + bad allergies, so it makes sense that there might be something else too. I guess everyone has to go through this process.