Diagnosis and more questions

[connieS]

Hi,

I was told today by a neuro that mine is a typical case of ALS. He has given me a firm diagnosis of ALS, but I am still not quite convinced. He referred to my emg results which I had earlier posted, and also did a check on my strength and reflexes. He has seen approximately 30 odd ALS patients before, should I be questioning his diagnosis?

I'm sorry if some of these questions have been asked before, or if my questions are not in order. Theres lots running through my mind, all I know is that I'm not fully convinced I have ALS. I just want to see if there are any other thngs that could match my symptoms, which may have been overlooked. I have also been told that ALS symptoms never improve, but I have had some improvements in between, though that didn't last for long.

He mentioned that I am still in the early stages, but progression may get quicker as time passes. I'm 26 this year, and where I am, there isn't any ALS centre or clinic, as we have a small population here. Here are my symptoms:

July 08 - weakness in left hand started
Aug 08 - weakness in left leg started
Sept 08 - weakness in right hand started
Oct 08 - had an infection which resulted in me experiencing tremors on 4 limbs
Nov/Dec 08 - EMG was clear
Dec 08 - gradually recovered from the infection but strength never quite returned
Feb 08 - clear emg
Mar 09 - started experiencing difficulty in opening mouth and chewing, neck started feeling v tired and sore
May 09 - 1st emg showed problems in 3 areas, neuros were looking at Myasthenia Gravis, Thyroid disease, MND or ALS.
June 09 - 2 emgs showing problems in at least 4 areas, fasciculations started, but very mild, started feeling that my limbs are stiff, ALS was mentioned to me, +ve for babinski and hoffmans, hyper reflexes in arms, legs, and jaw, neuro noted atrophy in 4 limbs
July 09 - fasciculations got more obvious, could see it now; had problems climbing stairs, especially when coming down, neuro noted atrophy in tongue

They ruled out the MG and Thyroid after my blood tests, and a trial of Mestinon. I have done MRIs, CT scans and a lot of bloodtests before being told about ALS in June. I have started feeling a little short of breath these few days, am hoping that it goes away soon, but it has gotten worse this week. I not scared or anything, but would like to see more neuros to see what they think. I have seen 3 neuros, who have told me that its likely ALS (in June) and one who told me today that based on his experience and what he can see, it is ALS. He has adviced me not to delay treatment and to be really careful when I eat.

Do my symptoms sound like ALS?

I have not experienced bad cramps, which is stated as a symptom of ALS, so I don't really think that mine is a typical case of ALS. In addition, i am thinking that my fascics maybe BFS, as they are not constantly twitching at the same spot, but the neuros don't seem to think so (read some where that BFS twitches can appear all over the body, but ALS twitches start in a limb and it stays there, only more areas get affected as time passes by). I don't recall my fascics starting in the weaker limb, it wasnt that obvious when it started. I have experienced soreness in my limbs too, which doesn't seem to be a symptom of ALS as well.

I am not sure if I should wait another 1 - 2 mths to see if my symptoms improve or progresses before seeing another neuro. Is this advisable?

Thank you for all your time in reading and for all your help! I have been overwhelmed by the positive attitude that many of you have shown and have been inspired in more ways that you can imagine. I do hope that it isn't ALS, so wish to do all I can to question that diagnosis. But if it is, I am sure that I will not let it get to me as well.

[rose]

Connie,

I'm sorry for the news you received. I'm no expert, and I can't say that it doesn't sound like ALS, but given your age, and that ALS is so rare anyway, there certainly is room to hope it is something treatable.

Did you ever have a single fiber EMG? I'm not sure how its different, but it supposedly is able to discern ALS from MG (even though you had no luck with the Mestinon). I've had an atypical presentation and progression and continue to question my diagnosis too, although I'm much more in the more common age group to have this than you are.

Hopefully someone else will have some better insight for you. Regardless, you're very welcome here to hang out with the rest of us!

[tms23]

Connie,
I am very sorry for your symptoms. And I am still in the hope that you don't have ALS.
It is weird and against the logic of how people here on this forum argue. How can you have limb weakness, two clean EMGs and one year later two dirty EMGs with the diagnosis of ALS?
Maybe someone here can give me an answer...

[SandraD]

Connie,

I am very sorry to hear about your diagnosis- you are so young to be facing this. I cannot say whether or not this is ALS, but I am wondering if you are being seen at a top-notch ALS center. I see that you live in Singapore and I am not familiar with medical care there.

Personally I also find it alarming that you had two clean EMGs early in this process, both in the face of muscle weakness, then the EMG results were abnormal later. It has been repeatedly stated on this board that weakness and atrophy are lower motor neuron signs and if present due to ALS, they will result in abnormalities on the EMG. It is frightening to me because I have weakness and mild atrophy in my hands and arms and had a clean EMG and was told therefore this could not be ALS. I also have off an on again twitching, pain, some weakness of the legs, and lately noticing bouts of excess saliva. There is a lot of twitching activity in my face now, particularly around my lips, but that area was not tested on EMG.

Can someone-- Wright perhaps-- please comment on how Connie could have the lower motor neuron signs of muscle weakness and still have two clean EMGs before those EMGs changed?

Connie-- were the clean EMGs conducted by a specialist in neuromuscular disease or a general neurologist?

I hope your diagnosis is wrong.

Sandra

[miss91]

I think I read someplace that some weakness can be attributed to upper motor problems - but maybe I am wrong? If your weakness was related to that, then maybe that is why it did not show up on the clean EMGs? I read that spasticity, some weakness, etc. is caused by UM problems. So if you weren't having fascics (LM) or atrophy (LM) yet, that might explain why your EMG was clean. I COULD BE WRONG, but it's just a thought, seeing as your fascics didn't start until AFTER your clean EMG's.
I wonder if your neuros did your clean EMG's correctly? Everything I read on here says that the person's skill doing the EMG is very important, which is also scary. How are we as patients supposed to know whether the DR. doing the EMG is knowledgable enough to perform it correctly?
Anyway, I'm very sorry about what you are going through. Do you have family around to support you? Either way, I hope you will do what the doctor said and start treatment and eat well, it can't hurt and doing everything you can to be healthy sounds like a great plan at this point.
Keeping you in my prayers, take care!

[Erica]

Connie, I'm so sorry about your diagnosis.
Wright is the only person who can advise on EMGs'; he is very kind and knows a lot about it.
As far as UMN and LMN sypmtoms and signs please see the below table:
Limb signs and symptoms associated with amyotrophic lateral sclerosis

Upper motor neuron signs
Spasticity
Slowed rapid alternating movements
Increased reflexes
"Preserved" reflexes in weak/atrophic muscles
Distal spread of arm reflexes
Hoffman's sign
Crossed adduction
Upgoing toe
Triple flexion
Gait disorder
Spastic
Lower motor neuron signs
Weakness
Intrinsic hand weakness
Foot drop
Proximal arm and leg weakness
Poor heel and or toe walking
Poor rise from chair
Poor squat
Gait disorder
Steppage
Waddling
Reduced reflexes
Muscle atrophy and fasciculations

Upper motor neuron symptoms
Stiffness, slowness and incoordination of movement
Hand and / or arm
Difficulty performing activities of daily living
Difficulty manipulating small objects or writing
Leg and / or foot
Gait dysfunction
Slow stiff gait, difficulty turning
Legs "heavy"
Poor balance and falling
Spontaneous clonus
Spontaneous flexor spasms
Lower motor neuron symptoms
Weakness and atrophy
Arm and / or hand
Difficulty performing activities of daily living
Difficulty manipulating small objects or writing
Leg and / or foot
Difficulty arising from chairs or from floor
Difficulty climbing stairs
Foot drop
Tripping, falling
Fasciculations
Cramps

With best wishes, Cookie

[miss91]

Cookie, I agree....Wright will know. I just got my info on the UM weakness here:
Upper motor neuron lesions are indicated by spasticity, muscle weakness, exaggerated reflexes, and an out toeing (flaring) of toes and extensor plantar response known as the Babinski sign.

http://en.wikipedia.org/wiki/Upper_motor_neuron

[awieleba]

Connie,

I am very sorry for your dx and hope that maybe it will be something else. This must be a very difficult time for you right now. I am sending positve thoughts of strength for you.

tms,

I understand your concern (as I have some issue's and clean emgs).
If you look at the dates, it was not a year later that emg changed. The emg changed in 5 months. Dec. 08 (first emg) to May 09. All these emgs were done withing 6-7 months. You can see that as sx got worse or progressed, the emg did as well. This all took place within a year. In my un educated opinion, I think an emg can be clean VERY early in when only weakness is presenting. The emgs were clean up to the point where the 'other' sx showed up like fasics, throat problems, babinski, hoffmans, hyper reflexes, atrophy. So, if somone has all the above mentioned sx and still a clean emg, I would think that would be a little piece of mind about Their illness. I hope things go well for you too, tms.

Take care,

April

[Zaphoon]

Connie,

It is always worth getting a second and even a third opinion in the case of an ALS diagnosis.

It is possible to have a clean EMG before diagnosis because there may be delayed lower motor neuron onset in the beginning. That is the case with people that are initially given a dx of PLS that is later changed to ALS.

My differential dx is PLS and I have fascics that are benign.

It would be good to seek out at least one more opinion by a specialist in MND.

Zaphoon

[SandraD]

Connie,

I did notice you said in your post that there is no ALS clinic/center in your area. Is it possible for you to travel somewhere nearby where there is such a clinic for a second opinion?

Sandra

[tms23]

April you are right, but if we put weakness and fasics on the same level (LMD) we shoud expect for both the same findings on EMG, I think. MayBee I am wrong, but this case have to change our thinking about the EMG if not. And that is weird! Sorry for my english, I am not at Home and don't have a dictionary...

[awieleba]

Tms

your english is fine! I do see what you are saying, but she had weakness and 'tremors' in 08 with clean emg, and fasics showed up in june of 09 after a dirty emg. I know how you feel, and we want to believe that our clean emgs will give a piece of mind, but yet still fret over them being to soon. Only time will tell, and remeber it is not the emg alone that tells about a dx, there is another clinical picture that they look at.

take care

[miss91]

I am wondering if the "tremors" were related to the infection in 08, because Connie mentions that the fasciculations STARTED in June 09...just trying to convince myself and others about clean EMG's here. I see the EMG became dirty just a month before the fascics started, which matches up with what I've read from the pros here...that the EMG will show the LM involvement even before you notice the symptoms (talking about the fascics here).
I am SOOO not an expert (OBVIOUSLY), just joining in the discussion. Connie if you need one more expert opinion, you should get it for your own sake. If that is what it takes to ease your mind, perhaps you should do it. I pray you have some comfort and peace in all of this!

[connieS]

Thanks for all your replies, didn't expect such quick responses!

I'm not sure how come my emgs have changed, though for sure the first two EMGs were done by a technician. Even though my weakness persisted, I just took those EMG results as being great! Its only when my symptoms got worse then I thought it maybe MG which is difficult to diagnose as well, and went overseas for treatment at a neuromuscular specialist centre. I would strongly encourage all who have clean EMG results not to focus on ALS alone. My neuros have told me that theres close to 400 kinds of diseases or illnesses that may cause weakness or symptoms similar to ALS. I know how tough it is without a diagnosis, but to be diagnosed with ALS isn't exactly something to hope for too.

My symptoms were not typical of ALS in the beginning due to the tremors (which later subsided in 2 weeks and they attributed the tremors to an infection), and considering that there's less probably less than 50 people in my country with ALS (due to our small population), most neurologists here probably have not seen any ALS patients, or not more than 5 for those who have seen one. The next 3 emgs were done by a doctor, and all they do the whole day is just do EMGs for patients, so I've been assured of their expertise many times. These 3 EMGs were also done overseas, at 3 different neuromuscular specialist centres.

I'm sorry if I've got everyone who has not been diagnosed thinking of ALS even though they have had clean EMGs, its not my intention to do so.

I'm not an ALS expert myself, having only just heard of ALS in June when my neuros told me.

Rose: You do look quite young yourself! I'm don't think I have had a single fiber emg, how do I know what type of EMG I've done? Read online that not many places have the facilities to do a single fiber emg, would think that the hospitals which I've visited probably does not have the facilities or I would have done it long ago. "Or perhaps I've already done it? Lol. Am too hoping that its something treatable, am still keeping my spirits up!! Do hope that you'll have a more optimistic diagnosis too!!!

tms23: I would think that if you have had clean EMGs, then please dont start thinking of ALS. I know how tough it is without a diagnosis, but it would help to have a optimistic and positive outlook. All the best, and please do take care!!

miss91: I think you may be right to a certain extent, my tremors subsided after two wks in October, and my neuros attributed it to an infection which healed on its own. Thanks for trying to calm them down about EMGs turning dirty. I'm not sure how to look at the expertise of the person doing the EMG, usually I jsut talk to them to find out how long they've been doing EMGs. HAve kept my diagnosis from my family, told them its nothing to worry about. Don't really want to scare them now as my dad has cancer (stage 4) and is about to go overseas for treatment. But I'm fine, really!

cookie: thanks so much for posting this. I have a mixture of signs here and there, am thankful though, that I don;t have the whole list of symptoms. Don't really understand some of the symptoms, such as Slowed rapid alternating movements, Distal spread of arm reflexes, Spontaneous clonus, Spontaneous flexor spasms, Crossed adduction
Upgoing toe, Triple flexion.

April, Zaphoon and SandraD: Thanks! Will try and see if I can find one ALS expert in my area! Unfortunately travelling overseas isn't really an option as I cant travel on my own. My dad's down with cancer and needs people to look after him.

Once again ,thanks so much for all ur help!