Some advice, input please!

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Some advice, input please!

Postby misterjuanperalta on August 23rd, 2015, 4:50 pm

Hi,

My partner started twitching, experiencing numbness, paresthesias and cramps just over a year ago, following dietary and lifestyle changes. There was a difference in the beginning which persists - tripping on one foot on occasion, and difficulty with heel and toe walking. On MRI, there were some white brain spots and an unremarkable cervical and lumbar spine. MS was excluded and she was diagnosed with two types of migraines (with auras, blindness, pain). As time passed, she developed a brisk jaw jerk, bilateral arm and hand weakness with unusual muscle tone appearance where a bottled water feels heavy and I have to open it for her. Tongue (left to right) movement is difficult and sometimes painful. Swallowing is difficult, dry mouth is frequent and drooling is occasional. All other reflexes are normal. Further, she's been having bilateral cubital tunnel symptoms. It's important to note that both of her grandparents died of Alzheimer's, her dad now has it, and her mom and aunt had a history of atrophy that was not investigated or the details are unknown. Her mom died of gall bladder cancer before atrophy of one arm could be investigated.

Is this typical of ALS? Please advise.

Thanks
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Re: Some advice, input please!

Postby Yuliasir on August 23rd, 2015, 11:53 pm

on my point of view, too slow for typical picture (more damage is expected in one year, I think). Definitely family history of atrophy suggestssome possibility for inherited neurodegenration disease (however it could be other reasons, for example, familial hypermobility causing compression in later age), but it looks like it was not full blown ALS anyway. Death in ALS is quite specific and celarly associated with bulbar brain failure (breathing center failure), so it could not be missed... not in the last 40 years I think.

If the doctors do not suspect ALS despite on some obvious neurological deficite, why should we do that? Alzheimer rather impairs cognition and mood, however some motoric functions may also be impaired but it is anyway better to ask neurologists about any relationship.

I understand that seeing dear person in troubles is one of the hardest trials in the life, so have my sympathies here.
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Re: Some advice, input please!

Postby leroyb on August 24th, 2015, 10:27 am

There is association between c9orf72 mutation and ALS/ALZ particularly in Northern Europe but as Yulia says that picture does not sound like ALS. Balance issues for example would not come and go.
MY wife gets migraines so bad the ground wobbles in front of her and she can barely see. She also gets muscle twitches too and tingling extremities. All related to the migraines they think.
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Re: Some advice, input please!

Postby misterjuanperalta on August 24th, 2015, 11:15 am

leroyb wrote:There is association between c9orf72 mutation and ALS/ALZ particularly in Northern Europe but as Yulia says that picture does not sound like ALS. Balance issues for example would not come and go.
MY wife gets migraines so bad the ground wobbles in front of her and she can barely see. She also gets muscle twitches too and tingling extremities. All related to the migraines they think.


What about the brisk jaw jerk?
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Re: Some advice, input please!

Postby leroyb on August 24th, 2015, 4:56 pm

I remember reading that was so common in the general population it was nearly useless. That said both neurologists i saw checked it.
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Re: Some advice, input please!

Postby Yuliasir on August 25th, 2015, 12:24 am

I also must note that you may have a bias on your own assesment of your partner condition.

The only symptom which is different from ours is that she experiences difficulties in walking on toes and heels (as you say that), but in one year it should definitely result in more deficites, like steppage gait or foot drop, for example, and definitely it would be a point of attention for neurologists becasue this means a problems with leg muscle innervation.

For all the rest of symptomes, it is not clear for me, for example, if they are really so evident and persistent as you describe.
For example, for water bottles - my hubby often opens them for me because they are so bloody tight I can not do that initially, but once opened, I can manage them easily. If that is your case, probably, it is just becasue the caps are pressed to tight initially.
Painful tongue movement rather says about distorted jaw and neck muscles (postural distortion) which is not uncommon.
Difficult swallowing, dry mouth and drooling (usually in the form of wet mouth corners) also may be differrent in perception, for example, when it is disruption of swallowing due to bulbar paralysis, it is usually completely stunning for the victim becasue he or she feels like all things are going wrong - instead of passing the food/drink freely, he or she just has the throat shut, and it is impossible to drink (first) and later even eat. Attempts causing coughing, choking, the water comes out of the mouth etc. While reflux dysphagia does not prevent a sufferer neither from eating nor from drinking, it just gives a feeling of very tight throat, tight and unpleasant swalloviong up to the strong pain and feeling the food is stuck in there. But the feeding and drinking ability is generally preserved.
Dry mouth and hypersalivation are autonomic disfunction signs and happen well often in our community (becasue most of us have autonomous disfunctions). MIgraine patients are quite disfunctional in those terms, and generally the whole migraine condition is considered by modern neurology as a kind of attempt of an autonomous nerve system to adapt to a highly unfavorable environment. I would rather agree with that idea, considering for example the fact that my daughter celarly demonstrated that in her case migraines were a kind of attempt to compensate extrememly strong tension she got in her teens. As the tension relieved (even being replaced by other environment, more challenging but associated with more pleasure, rewards and success, migraines said goodbye and come back only when she is really really badly out of order).
Brisk jaw reflex is also common thing as Leroy says.

Clinical importance of the symptom or signs is usually in their constellation. People may have denervation not only due to ALS, for example, compression traumas also cause it, fractures cause it, poisoning may result in denervation and paralysis etc. Reflux dysphagia is different from bulbar one (but both are dysphagias). Postural muscle straining and hardening is different in clinical meaning from high muscle tone caused by pathological process in the centran nerve system but palplation will result in the same feeling of hard stone-like muscle, etc.
For being suspected as ALS victim, person needs specific changes and deficites to be present in combination and developing in a timeline in a specific pattern. If your partner does not fit this pattern, then you may have bias perceiving her symptomes in the same way as you percieve your own (and as we all do here).

Anyway, having at the same time symptomes in arms, legs and fascial region is a bit uncommon for classical ALS picture, becasue for some reason in ALS loss of functions seems to be less diffuse. Usually ALS victims lose their motoric functions in a focal way - one leg or hand at a time, leg and hand or one side, or both legs but not hands at the same time (or vice versa), or clear bulbar symptomes come first, while the rest of motoric functions are still preserved, etc.

wish your partner find a resolution of her stresses and symptomes, and of course wish you too to get some relief becasue it is so hard to see the dear person is suffering.
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Re: Some advice, input please!

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