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gers03

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Hello there, I have just joined this forum, my father 71, has just recently been diagnosed with MND, Its absolutely devasting for my family and myself.

I have a few questions regarding diagnosis and i am positive people within this forum would have the experience to answer them?

My father has experienced muscle twitching in both arms and across his chest since October 2013. His left hand is a little weak. He has told me that his leg is the same, however we cant be sure whether this is just symptoms because he was told of what happens when the disease progresses. He has had an MRI to see if it was the nerves were trapped by the neck muscles and this wasn't the case. He has also just had an EMG and a new specialist re-confirmed the diagnosis MND.

To date this all the tests and symptoms my father is showing. When he was diagnosed with MND he was only physically examined with no tests (I felt that this was strange, considering that this disease is very hard to diagnose) He is yet to undergo a breathing capacity test which will occur this week.

He shows no other symptoms and I wanted to know whether this could still be a misdiagnosis and could still possibly be BFS or PLS?

I have recommended that he also undergo a muscle biopsy to test for any other possible conditions. I just find weird that without any tests that were able to say definitively that he has MND. What are peoples thoughts around this?
 

pearshoot

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with an emg and nct showing signs, the physical exam usually tells the tale. neuro can detect difference in strength by the push pull test...definately get second opinion
 

lgelb

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It's prob not worth putting him through a muscle bx unless there is some reason (like the EMG) to consider myopathy in the differential.
 

ECpara

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My husband was quickly diagnosed. MRI ruled out stroke so local neurologist thought he showed all signs of ALS; i.e. fasciculations, slurred speech, brisk reflexes. Referred him to ALS specialist, had an EMG and he was diagnosed that very day. He's had Bulbar Onset ALS for over two years now. Very slow progression of disease thank goodness. Sorry I'm not painting you a rosy picture. God bless you and your dad.
 

Dusty7

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Okay, first MND in Australia is what in the US we call ALS (or Lou Gehrig’s disease). It does not encompass the whole spectrum that we in the US call MND—ALS (UMN & LMN), PLS (UMN only), PMA (LMN only), pseudobulbar palsy (UMN-bulbar region) and progressive bulbar palsy (LMN-bulbar region). Since gers03 is from Australia, I will assume he is using Australian terminology. (Won’t it be nice when we can all agree on terminology?)

First, muscle twitching is not particularly significant by itself and can be caused by scores of things. Second, the fact that he feels a “little weak” is also not particularly significant. This is perceived weakness, not clinical weakness (which is important). Third, the cervical MRI was clean; that’s good. Fourth, he had an EMG and a new specialist “re-confirmed” the diagnosis MND. Who gave the first diagnosis? Was he a neuro? Was the EMG done by a neuro? A neuro specializing in MND? I’m not a doctor, but I fail to see how anyone can confirm ALS (sorry, MND) with one EMG, since MND requires UMN signs (which can’t be seen on an EMG) as well as LMN and progression over time. It also requires the elimination of every other disease that could cause the symptoms, which usually requires scores of blood tests, multiple MRIs and more. As you say, “this disease is very hard to diagnose”; it is definitely that and is, in fact, a diagnosis of elimination—you have to eliminate e very other possible cause before you can say MND (ALS).

I only have what you have reported and this may not be everything the doctors did or discovered, but what about UMN signs (hyperreflexia, Babinski, etc.) and where is the clinical weakness. Clinical weakness is a major symptom in MND (ALS). In my non-doctor opinion, I think it could still be any of a number of things because I just don’t see that they have been eliminated. If this were me, I would definitely be seeking another opinion and I would want copies of the EMG (in detail) showing the muscles with active deneration (insertional activity and spontaneous fibrillations), long-term denervation (MUP duration, amplitude, phases, turns, etc.).

I agree with lgelb and would skip the muscle biopsy until after another EMG or two and the finding of active and long-term denervation in a couple body regions (lumbosacral, thoracic, cervical and bulbar.)

I would certainly not give up hope at this point. Based on your post, stay positive, get another opinion (with EMG) and be patient. This disease is hard to diagnose and sometimes the neuro has to see progression over a period of months. And that means patience!
 

gers03

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Thank you all for your comments and well wishes!

@Dusty7

Thank you for responding in detail, Yes my father and I are located in Australia, I was always under the impression that MND is the same as ALS or Lou Gehrig's disease. Anayway, when my father was first diagnosed with MND, he went to see a Neurologist who completed an MRI and after which referred him to a specialist and the specialist gave his diagnosis based upon a physical examination, this included looking into his mouth and observing his tongue etc...

My father was then referred to the neurology department for an EMG. The person who conducted the EMG was a neurologist and confirmed the first diagnosis of MND.

Would it be worth getting multiple EMG's done? I just want to know why this would need to occur? can something be missed on the first EMG? As mentioned above, my father will be tested for breathing capacity today, so I will know what the results later on.

Again thank you to everyone that has responded thus far.
 

gers03

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@Dusty7, one other thing, his left hand is weak, he cant put pressure down from his thunb to his finger, however he has had surgery on his hand a couple of years ago, he was a goalkeeper back in his younger days playing soccer, so he has had lots of problems with hands. You can also see that both forearms are thinning out, i.e they were bulkier 6 months ago.
 

Dusty7

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I would say the main reason for multiple EMGs is to see how widespread the denervation is, and thereby to track down the true cause.

For example, say your father injured his neck at the C6 level on the left side; that is the nerve that innervates the left thumb. If that C6 injury causes swelling, or there is a stenosis or whatever in the spine, pinching the nerve root (a radiculopathy) then an EMG of that thumb could show acute and chronic denervation, but the denervation could be due to the radic not a lower motor neuron disease. Since LMN is necessary to a diagnosis of MND(ALS). the neuro will generally EMG another are, say the right leg. But let's say your goalkeeper father also had a radiculopathy in the L3 area. The nerve that exits the L3 area innervates the ankle dorsiflexors (where weakness can cause foot drop). A clinical exam would say, foot drop = possible LMN, and an EMG might indicate the same thing. So, is it a neuropathy? Or a radic superimposed on another radic or a lower motor neuron problem?

Well, if you do an EMG of the right leg, left leg, the left arm, right arm, then run the thoracic paraspinals (a good indicator of LMN), and the lower cervical area, you either have LMN or a dozen or so radics. Which seems more logical? Unless an MRI shows massive degeneration in the spinal coulumn, I think the neuro will be comfortable saying LMN.

Next, thumb weakness is very common in MND(ALS) and there are at least 3 teams, 1 in Australia, working on proving that the "Split Hand Index" is a test that positively identifies MND(ALS). You can look it up on the internet, but basically it is a weakening of the FDI (the muscle on the back of the hand between the thumb and index finger) and the APB (one of the muscles on the thumb, on the palm side), while the FDM (consider that the karate chop muscle on the little finger edge of the hand) does not weaken. Once again, an EMG is done on the muscles and a number is calculated that says a positive Yes to MND(ALS). It's too new to be used clinically, but that weakness and atrophy of the thumb side of the hand is common and we have talked about it on this forum.

Atrophy of the forearms is hard to assess because there are probably no records to show his size 6 months ago. It's a little easier to spot if only one arm has atrophied, but, once again, an EMG will tell the neuro about the denervation going on. I am not a doctor, but I went through a lot of the above, so I am pretty familiar with it.

Good luck on the pulmonary tests.
 

bluedog

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A person only needs a second EMG if the first one was normal or if it was not abnormal enough to diagnose ALS. When the EMG is abnormal enough to diagnose ALS, a second EMG is not needed.
 

FSHolbrook

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It is always a good idea to get a second opinion. I am not sure when the EMG shows problems that a muscle biopsy will show something different. I am really sorry that your dad has this and that your family has to go through it with him. You all are now on my prayer list. :)

Rick
 

alsornot

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hello there too! sorry about your father's diagnosis but i have had leg weakness, foot drop, fasciuculations everywhere , even tongue...muscle cramps and spasms, feet and hand cramps and severe breathing issues. after 14 months i am now using a walker outside the home, my balance is so off....i have had test after test after test and monday i was told it was MS and the next day the hospital called and said i had to be retested as there was a problem with there machine...so i probably do not have MS.....please please please if you got the diagnosis this fast take it....and work with the neurologists to make your father comfortable. i am 59 and my husband is a physician, i think the drs. are just delaying my diagnosis to be kind.....give your father my best and take good care of him.
 

gers03

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Thank you to all.

Special thanks to Dusty7 for the informative responses. My father is seeing his Neurologist on April 1st, so I am armed with a lot of information to ask questions.

Rick, thank you for the prayers, We need them!

It may appear that further testing still needs to be done.

There is some hope, and I am grabbing a hold on to that.
 

gers03

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So my father has had his pulmonary breathing test, some positive news is that his breathing is normal and there no issues with his bulbar muscles. I asked his Neurologist whether my father is showing any symptoms of any upper Motor Neuron damage, to which the answer was no. However he still maintained that he had ALS. The MEG results were confirmed by a second neurologist.

What I don’t understand is, why would he be diagnosed with ALS, if he is showing no signs of upper motor neuron damage? I was under the impression that you would need to show both upper and lower motor neuron damage to be classified.

My father has been referred to a specialist branch in MND now, so hopefully we can get some definitive answers. The issue I find is that the Neurologists that my father has been thus far are not specialised in this area and I fear that they have classified him having ALS without discounting other possible causes.

If my father is showing lower MND signs and not upper, what does this really mean? will it progress to upper at some stage or will it remain lower?
 

Nikki J

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Lower motor neuron disease without any upper motor neuron disease would be a form of MND called in the US progressive muscular atrophy ( PMA) it is generally slower progressing than ALS so if this is what he has it would be slightly better news. Of course the upper motor neuron part could show up later And then it would be ALS. Good luck with the next neurologists. Hope they can address all your concerns
 

gers03

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Thanks for the response Nikki J. Im doing some internet research now into PMA. Its just unfortunate that this is also incurable just like ALS.
 
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