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Tamra

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Hi Everybody,

I'm new to this so I hope someone out there can help me. As my title indicates, it's been nine years that my father has slowly deteriorated and we still don't have any answers. My father used to be an extremely athletic man (marathon runner). His first symptoms were muscle twitching and foot drop. He then began falling down (broken ribs once, broken arm another time) and started to lose muscle in first his legs, then his arms. Throughout this time, he was losing strength and becoming weaker. He has trigeminal neuralgia and had two surgeries for it in addition to some back disc problems. His walking is unbalanced and he staggers. He would benefit from the use of a cane, but he refuses to accept that his body is failing. (So he stills falls) He drags one foot and has learned to "throw" his hip forward to move that leg. We have watched my father gradually worsen. The most frustrating part (as you all know) is the not knowing. He has had multiple tests and no conclusive answers. In February, 2006, he went to his neurologist and was told he could not have ALS because his EMG's were normal. Since then, my father has lost the ability to swallow liquids. A gastrologist confirmed it was due to muscle loss. Upon his recent return to his neuro, he was told that he has considerably worsened since February and it could be ALS, but not likely because it's gone on for so long. He was told he will need a feeding tube in the future. He goes in for an MRI and another EMG in the next 10 days.

My question is this: Has anybody had a similar situation? Are EMG's the only way to get a definitive answer?

I'm sorry if my post seems like a repeat of another post. I did write one somewhere else, because I did not know how to start a thread. (Now I do).

Thank you for any help you can offer.
Tamra
 

Meg1

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Almost by definition, slowly advancing symptoms of ALS combined with a negative EMG is PLS (primary lateral sclerosis--google it). True PLS is very rare and it's not unusual for PLS diagnoses to be changed to ALS as symptoms progress and EMG's become positive. I'm really surprised none of your doctors has mentioned this possiblity to you or your father. What you need to do is have him evaluated at an ALS center--general neurologists just don't see enough ALS to reliably diagnose it or rule it out. I certainly wouldn't waste any more time with a neurolgist who watches a patient deteriorate for nine years without a diagnosis.
 

Tamra

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Thank you for your response. To my knowledge, PLS has never been mentioned. In all fairness to my father's most recent neurologist, I believe this is the fifth one he has seen. (Over the years he has been referred to different ones). Approx. five years ago, my father was sent to UC San Francisco to the ALS clinic. At that time, they said he did not have ALS and sent him back to his neurologist. His current neuro said that he will refer my father back to UCSF when he has a definite diagnosis.

For the first time, depression is starting to set in with my father. He seems to know (with his most recent symptoms - inability to swallow) that whatever he has is serious. I think he is also concerned because he watched a dear friend and colleague die from Lou Gehrig's disease several years ago.

What a cruel disease.
 

patricia1

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I have Als 7 years all emg are neg for als all mri and blood test are all good. But they claim I have als by process of elimination. I started with slurred speech and this year its in my arms. I think most doctors are clueless when it comes to the brain. I now go to,philly to a team every two months and I am in a study for bipap. I guess the worse I get the quicker the diagnosis.I hope they arent missing something that can be cured 7 years ago Thanks pat
 

Tamra

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Thanks for the info Pat. I agree with you that the worse you get, the quicker the diagnosis. I really feel like an answer to my father's symptoms will be in the near future. I think one of the hardest things is that my father wants to know but really doesn't want to know. Does that sound familiar to anyone?
 
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Tamara,
Your statement of you father "wanting to know...but not wanting to know" sounds very familiar to me. My Mom was just diagnosed w/als after being quite ill for nearly a year. She's been to many doctors, nuerologists etc and so frustrated with no answers as she gets weaker with each day. Now that we do know what it is, Mom is extremely depressed and doesn't want to do anything now. I on the other hand was relieved to get an answer even though it wasn't what we wanted to hear. So sorry about your Dad....hope things get better. Take Care.
Laura
 

DavidGL

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Meg1,

Everything that I have seen on PLS says that it is a variant that affects only upper motor neurons (which would be why it does not show on EMG). Because it is affecting only UMN, it should not cause muscle wasting but rather, spasticity, stiffness and hyper-reflexia. There should be no muscle-wasting, though the muscles may well become weak over time. PLS victims never get the respiratory failure for this reason. I had gone down this road myself because, while I do have atrophy in my vocal cord I do not have the equivalent elsewhere (knock on wood); but I do have cramping and stiffness in both legs. I asked my neuro about PLS and he said I am not showing the signs of UMD--which would primarily be the hyper-reflexia.

Tamra,

One of the eye-openers for me (courtesy of this forum) is how much this MND varies from person to person. I have known two individuals personally with what I will call "classic" ALS (one is gone now, the other is no longer moving any limbs). It is classic in the sense that the progression rate is in that 3 to 5 years til death arena. So that was my view of what ALS is. Unfortunately, the neurologists seem to confirm that idea; they don't mention the slow progression that so many others seem to experience. I know I have read here somewhere of a person that went undiagnosed for many years while experiencing a dragging leg. It just did not show up on EMG. My neurolgist wears two hats. With the one on (the person hat) he says "my gut feeling is that you have bulbar palsy". With the other (the official doctor hat), he says "unfortunately, we can find no underlying neurological reason for your problems". They are trying to schedule me into an ALS clinic for second opinion and I get to do the swallow test later this week. But I have a funny feeling I am going to be in one of those "wait a long time to get diagnosed" situations myself. At least it truly is moving slowly for me and I will take that.

I wonder if any research is being done into trying to find a way to diagnose the neuron damage at an early stage?
 

Meg1

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DavidGL said:
Meg1,

Everything that I have seen on PLS says that it is a variant that affects only upper motor neurons (which would be why it does not show on EMG). Because it is affecting only UMN, it should not cause muscle wasting but rather, spasticity, stiffness and hyper-reflexia. There should be no muscle-wasting, though the muscles may well become weak over time. PLS victims never get the respiratory failure for this reason. I had gone down this road myself because, while I do have atrophy in my vocal cord I do not have the equivalent elsewhere (knock on wood); but I do have cramping and stiffness in both legs. I asked my neuro about PLS and he said I am not showing the signs of UMD--which would primarily be the hyper-reflexia.

You are completely right about PLS not producing the type of muscle wasting seen in ALS but that doesn't mean that Tamra's father can't have PLS. PLS patients do experience loss of muscle mass (due to inactivity), and some even report fasciculations (another thing the books say those with PLS don't have). Given his negative EMG's and extremely slow progression, I'm surprised that his doctors are jumping to ALS so quickly without at least considering PLS. But perhaps the muscle wasting is so severe that a PLS diagnosis is untenable. OTOH, I'd be shocked if any doc other than one specializing in ALS has ever even seen a PLS case. And that's why it's so important for him to be evaluated at an ALS center.
 

Tamra

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Thank you all for the insightful information. I continue to read and research everything I can. I know the doctors will find a diagnosis, but sometimes we just want answers now. I'm not sure about PLS because I understand my father has UMN and LMN. However, from reading the above, it sounds like an EMG would verify LMN. Therefore, I'm not sure how his LMN diagnosis was obtained. He returns to his neurologist next week for another EMG. However, this doctor said he will then do blood work (again) to rule out other things. He will not send him to an ALS clinic until he has found a diagnosis. It's a little frustrating because it's an hour drive from home to the doctor and my father is having more and more difficulty and discomfort walking and riding. Additionally, an MRI was scheduled in our small town today, but when my father went for the procedure, he was told that they did not perfom the type of MRI the doctor wanted. Now my parents have to return to the city where the doctor's practice is for the MRI. The MRI is now scheduled for the day prior to my dad's doctor visit, so now he has to go down two days in a row. Seems to me there should be a better way.
 
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