Unusual but possible ALS symptoms?

[laurajh]

Pain started neck(hurt to turn head right) then aches in L upper arm/forearm. Pain in pectoral/armpit. All pain gone except residue ache upper arm, like after getting a shot. Then tingling in diff spots of upper arm & forearm, triggered while bent forward at neck & shoulders. Its been a month. Pain/tightness improved by stretch. No weakness/ twitching/wasting. Strong but arm feels tired. ALS sites say no sensory symptoms, but in forums people say otherwise. With anyone else, ALS would be the farthest thing from my mind, but in his family its genetic. His grandfather, 3 aunts, 2 cousins had it (all on his dad’s side) although his dad is fine and hes 76.  
His dad’ll be 77 in Jan. At that age having no signs does it mean theres a good chance he never inherited it?  I know of reduced penetrance, but wondering how common it actually is to inherit a gene & never develop als.  Reason I ask is because one of his aunts we know is a carrier because 2 of her sons have als. Shes 70 with no signs thus far.

1) Is this worrisome? He had follow up with Dr. last week, who didn’t seem concerened enough to refer him to neuro even knowing family history. Tingling started after that visit so he doesnt even know about that yet.

2) Id like more info on reduced penetrance re: his aunt. When a person is known to have inherited a mutation, are they more likely to develop symptoms than not? Is a carrier more often than not prone to develop it (& be considered very lucky if they dont?)  Hubby’s father is almost 77.  If hes fine does it mean hubby has a very good chance of being safe too?

[CCF-Neuro-M.D.-SH]

First of all, keep in mind that I am unable to diagnose you because I am unable to examine you, this forum is for educational purposes.    
   From the symptoms you describe, I suspect that you may have cervicogenic disc disease (from chronic wear and tear on your neck).  This causes pain with movement, and often pinches nerves in the arm causing numbness/tingling.  None of the symptoms you describe suggest ALS.  ALS should be of concern if you develop weakness and atrophy of a group of muscles (one common presentation is the "foot drop").  Twitches (fasiculations) and bulbar symptoms (problems swallowing, changes in voice) may also be present.  I would suggest an EMG of your upper extremity to assess for nerve root compresion (EMG is also the test used to look for signs of ALS).
   The vast majority of ALS cases are sporatic with no known genetic cause.  Of the few cases that run in families, our most powerful tool is the family history in indentifying a genetic link.  Most inheritance patterns described for ALS tend to be autosomal dominant (No carrier state, if you have the gene it causes the disease).  The only gene demonstrated to cause ALS in ~20% of the familial ALS cases is the superoxide dismutase gene 1 (SOD1).  Since we do not know the genes involved in the vast majority of ALS cases, I am unable to speculate as far as the penetrance etc of your family.  I would suggest that you see a genetic counselor that will be able to draw out your family tree and establish your risks of inheritating selected conditions.
I hope this has been helpful.

[laurajh]

I'm sorry that sounded like speaking in broken English but I was trying to condense as much as I could into 1600 characters.

I wanted to add some specifics.

The neck pain is gone, that was just what seemed to start the whole thing.  He doesn't recall doing anything physically to provoke any of this.  After the neck pain stopped that's when he started having those duller aches in the arm, in different spots every day (one day the deltoid, one day the tricep or bicep, one day around the elbow, etc).  When it started to hurt the pectoral muscle that scared him into the ER thinking it might be heart related, but cardiology confirmed that was fine.  Nitroglycerin did seem to ease it though.

The aching stopped in the arm for about a week but then came back again.  Then about 3 or 4 weeks into this whole thing that's when the tingling started and that's where we're at today.  No pain left, just tingling (which comes on pretty strong when provoked).  The fact that his neck needs to be tilted forward for the tingles to start sounds like a compressed nerve, but if it were a compressed nerve, wouldn't that hurt?  He has no pain now, just persistant tingling.

The pectoral pain I mentioned he had actually experienced on & off over a 5 year period, usually brought on by twisting the wrong way (usually in the car for some reason).  If it were als related, he would have had other signs by now, right?

[laurajh]

I should also mention that yet another one of his aunts developed symptoms at 71, and we lost her a year later.

Although it's less common for the disease to rear its ugly head at ages this late, it's happened twice in this family already.  These are/were the ages of the people affected:

Late aunt was 71.
Carrier aunt 70 with no symptoms.
Late cousin in 40's.
Cousin in 40's (these cousins were brothers)
Another aunt was in her 40's.
Grandfather was in his 50's.

Of the second generation, 3 out of 7 children are known to have inherited it. (2 developed signs, one just a carrier).

I would take comfort in the fact that my father in law being 76 and healthy for his age is a good possible indicator of not having had inherited the mutation, but then I keep thinking of the one instance where his 70 yr old sister is a carrier but not affected.  So I get myself scared thinking about that.


(is my anxiety disorder VERY obvious?)

[faithchris]

I would not worry just yet, having ALS is so serious as you know get a DNA test done to see if that is in fact what you have which is what your doctor may do anyway.  My Grandmother on my Fathers side had ALS and I had a lot of the symtoms and I have what is called Spastic Parapalegia which is not nearly as serious or life threatening as ALS.  So, the best thing I can advice is to say a pray and see your doctor and just don't worry about what hasn't happened yet.  I did that and it made me sicker than I was feeling before.
I will say  a pray for you as well.  faithchris

[mike1105]

this sounds nothing at all like ALS to me. symptoms sound almost exactly what i lived with for 3 years-- including the pec pain. my pain moved around-- shoulder, then deltoid, then forearm, then pec, then between my scapulas. it was nasty. even had numbness and tingling in hands/fingers. I had a myriad of testing and some unnecessary surgeries. I am now almost all better simply because for the last 4 months I'v concentratied on correcting my posture. Your hubby sounds like he has Upper Crossed Syndrome. Read about it on a website by Erik Dalton. it is front to back muscle imbalance. Pecs and certain neck muscles get tight and refer symptoms everywhere. mid back muscles are weak and need to be strengthened......... Read read read.

[Danielle9305]

Mike, I work for the television show Mystery Diagnosis on the Discovery Health Channel.  I would love to speak with you about your symptoms and how you finally got a diagnosis.
You can e-mail me direct at ***@****

[Nervous Guy]

Thank you so much for your response.  One question:  when you say "Benign fasicualtions tend to be rare," I assume you mean occasional in frequency in an individual as opposed to rare in occurance.  I would imagine that benign fasics are far, far more common than those related to neuro-muscular disease, right? Thanks again.