Mistaken diagnosis?

[Bestfriends14]

My apologies for not closing my other thread, as I do not know how. Why can I not do this?

Anyway, hubby was unofficially diagnosed on the 12th and we have our appointment at the ALS clinic on the 30th for an official diagnosis. The doc who did the unofficial is a specialist in neuromuscular disorders and an EMG specialist, but do you think he made a mistake? Maybe he is overzealous in his diagnosis. He is a younger doctor.

Hubby shows UMN and LMN disease and acute and chronic denervation in left and right legs, but absolutely nothing in his upper body. No signs on the EMG at all, plus no fasciculations (sp?). Considering this, maybe he doesn't have ALS? Another member stated he didnt show weakness in his body, as well, but I don't know. Maybe I'm in denial. How can he have a good EMG in his upper body and awful in his lower?

Hubby's left leg is pretty much dead and literally half the size of his right leg, but everything is good upper body wise.

Thoughts?

Thank you everyone.

 

[Nikki J]

Please bear with me as I am going to get technical here. It is, unfortunately extremely possible to have ALS just in one area at diagnosis Sometimes ( rarely) it stays in one area for a long time. I have a friend who just passed 10 years and it is in one legonly They are sure of her diagnosis. She is gene positive for a FALS gene and she has been seen by some of the leading ALS specialists around.

Here is where people get confused. The experts developed a stratification system and diagnostic criteria mostly for clinical trials. However they are the standards that are commonly used.

The criteria look for upper and lower motor neuron findings in more than one nerve area ( but there a number of nerve areas in a leg). It sounds like your husband definitely has this as both legs are affected

The confusing part is here: they divide the body into three regions ( legs, arms, bulbar) and classify ALS by the number of regions that meet the criteria. 3 regions is definite ALS, 2 is probable and 1 is possible. This DOES NOT MEAN people with only 1 or 2 regions might not have ALS. A significant number of PALS DIE without reaching definite criteria. Clinical trials are virtually always open to PALS with probable and usually with possible

I am glad you are getting a second opinion but the fact that only one region is affected does not mean the diagnosis is wrong. Not everyone twitches either.

Sorry to be discouraging

 

[bkite]

An MRI is often used to rule out spinal abnormalities that could have a similar presentation.

 

[Bestfriends14]

He's had three spinal MRIs and all are normal.

 

[Lkaibel]

Normal MRI's are bad news in an ALS diagnosis- it means they did not find a spinal cause for the symptoms.

My husband did not meet full diagnostic criteria at the time of diagnosis and may not exactly meet it now, one year later. That is pretty commonplace.

A second opinion is always good and recommended though, always.

 

[Bestfriends14]

Thanks for your help everyone. We'll have another definitive answer on Tuesday, I guess.

 

[Lkaibel]

I think a hard part here always is that ALS remains a slippery entity. There is this collections of symptoms and syndromes we call ALS, but the honest truth per our own Doctor is we are never sure that all of these things truly add up to the same disease. Three patients can have the same diagnosis, right down to being either bulbar or limb onset and can progress in such radically different ways and speeds, all leading to the same end but still so different in progression.

We know one man who has been in a wheelchair for seven years but after losing all strength in his legs, his progression has been at a halt for five years. He resumed some work as an attorney because he got bored. Multiple Doctors still swear ALS. He is granted a VERY rare case. Most people are gone within 5 years but it goes she how odd this can get.

Given the illusive nature of this disease and how little is known about it, my heart goes out to anyone in a diagnostic process. If it really is ALS, I wish a slow progression for your PALS and support and comfort for you both.

 

[Bestfriends14]

Thank you for your reply.

I have come to the realisation that I am slipping into denial, which is not good. The individual who diagnosed hubby has been out of med school for nearly a decade and did his residency at the ALS clinic, specialising in electrodiagnostics and then went on to open his own practice.

Oh well, best to always get a second opinion and we have to have a diagnosis from the ALS clinic to start treatment at the ALS clinic.

Thank you again