Anybody Familiar With Spinal Muscular Atrophy?

[InTheVoid]

Hello everyone! I'm a 25yr old man living in Saskatchewan with a family history of Spinal Muscular Atrophy, which degenerates Lower Motor Neurons only and usually affects children. A little family background, my mother has confirmed SMA linked to chromosome 5q, she was diagnosed in '96 and is 58yrs. She can still walk short distances and worked until she was 35. I have and uncle who is a quadriplegic, but was never tested. Also I had an aunt who died young(in mid 20's i think).

Anyways, about 3 years ago I started working light construction, drywall, painting, laying flooring, tiling, hanging doors and trim, etc. In February 2011 I noticed my legs were having trouble with climbing stairs while I was tiling a shower. I shrugged it off as being out of shape. Then that spring I worked pretty hard, shingled a roof, lots of tile jobs with lots of stairs, long 10h days. I also noticed cramping in my hands and forearms(shoulders too) while using a mixing drill and holding tiles and carrying buckets of mortar. Summer 2011, I was tiling a shower in a condo, and i caught a virus that put me in bed for a week. After returning to work I couldn't work at the same pace, I felt slowed down and I still feel the same way, I'm having more trouble with stairs and walking long distances. Tiling a kitchen backsplash is almost excruciating even though its a 1.5 day job. I used to be able to work long 10-12hour days but now all I can do is 4-6 hours if I pace myself.

My DNA tests showed I am a carrier because my mother is affected and passed one defective gene to me, but the other gene showed no mutation(although the test doesn't detect all possible mutations in the gene ). I have a muscle biopsy scheduled for next week but it seems like it's a year away. Does anyone have or know someone who has Spinal Muscular Atrophy? Specifically with a later onset in adulthood as it normally affects children? Please any comments or questions welcome!

 

[InTheVoid]

Quick update: My GP has tested me for all the usual suspects: diabetes, cpk levels negligibly above norm, informatory normal, hemoglobin normal, cholesterol normal, heart tests all normal including ultrasound. My neurological exam was normal with slight weakness in triceps, and hip flexors, also his arms overpowered my quadriceps. Although the neuro exam was normal he scheduled an MRI to rule out Multiple Sclerosis but I have not had it done yet. I have also been dropping light objects like my phone, bowls of soup, hand tools, not that they're too heavy, my hands just relax and let go of the object. And I am experiencing jerking muscles like my head will jerk to one side or the other, my arms and sometimes my legs will do it as well.

 

[HelenL]

InTheVoid, have you had an EMG done yet? That is a definitive tool to check your muscle and nerve responses. Hoping you have something other than ALS...

 

[bryant123martha]

I was diagnosed with SMA before I showed UMN symptoms so I learned a lot then. The best information comes from the FSMA. Call them I did with the one in Tampa florida and they had only person with later onset but it was so helpful. I also went to the international conference this past summer, it was in Orlando. It was amazing I was able to talk to the researchers etc... I think this year it is in Montana. Good luck to you!

 

[InTheVoid]

Yes i have had an EMG as well as the Nerve Conduction Velocity study. Here`s an excerpt from my report. ``The left peroneal motor and sural sensory studies were normal. EMG of the right triceps had non specific recruitment abnormalities. The thoracic paraspinal muscles had no clearly identifiable abnormalities. However, we did not achieve complete relaxation to comment on the absence of spontaneous discharges.`` I have no idea what `non specific recruitment abnormalities means, it sound pretty vague though. The doctor who did my tests said that it could be Guillain Barre syndrome, and if it were it wound resolve on its own.

 

[Kitchener]

Hi
I am presently awaiting test results for SMA. I am told that if the test is done using DNA sequencing, it is very accurate. As a suggestion, you might check back with your doctor on the DNA test to see if it was done using sequencing. For you to have SMA your father would also need to be a carrier. The disability spectrum for late onset (type 4) SMA has a wide range from pretty mild to quite severe. It seems to depends on how damaged the SMN1 gene is (or if it is there at all) and how many copies of the SMN2 gene one has to compensate. Interestingly there are a number of references attesting that SMA type 4 does not measurably impact life expectancy. Given the history of SMA in your family, your symptoms and the fact you still have questions regarding the testing, it's probably worthwhile to keep plugging away at this to get a definitive answer. You may need to retake the genetic test and I would certainly suggest getting in touch with a physician who specialises in SMA. Good luck and fingers crossed
Kitchener

 

[InTheVoid]

Kitchener: I have hao DNA tests done. The first was the carrier screen which showed one detected SMN1 gene. The second was the Sequencing Analysot sure which method was used as I have lost my report, however I remember reading in the disclaimer that although the test is close to 99% accurate if a mutation is detected, it basically only screens for the most common mutations that are on record for causing SMA and will not show large deletions/splices/or insertions in the gene. So maybe another go at the sequencing may show something. Also, my father was never tested for being a carrier because my brother and myself appeared unaffected. So we don't know if he is a carrier, and I have heard that in some cases the,DNA tests are just plain inconnclusive. Also some websites I have frequented say that in about 2% of cases a new mutation forms in the affected ones DNA, so only one parent is a carrier. That means that any child of an affected parent has a 2% chance of developing the condition regardless of the other parents carrier status. This is all so confusing, but I have been wrapping my head around it for some time now. Ofcource there is a chance that it is something else, but I must wait fory muscle biopsy to know for sure. As I've said in my previous post, I have an uncle who was never tested, and an aunt now deceist who was also never tested, so it is possible, however extremely unlikely that there is a second genetic disorder rampant in my family(though probably not!)
Thank you all very much for your input, I will be sure to post the results of my muscle biopsy.

 

[InTheVoid]

Wish this forum had an edit post button... Is pain usually associated with ALS? I have not come across any literature on SMA that includes pain, but my mother has a pain syndrome where she feels sharp shooting pains all over her body. She manages it with Gabapentin, and light doses of Cannabis when it's really bad. I just wanted to add that this spring I developed sort of a lightly burning(almost like an unbearable compression feeling, weird and hard to explain) sensation in my hamstrings, different from normal muscle pain in that it is not more intense when the muscle is used or stretched, in fact it was more noticeable when I was resting or sitting even just driving my truck. The pain got a little better as I took some time off of work, but it has since returned and spread through my legs including my butt, quads, and though my calves but not my feet. My first thought was a lower back problem but i don't have any lower back pain. I feel regular muscle pain fairly constantly as well, which I attribute to overusing my muscles.

 

[Kitchener]

Hi
In my reading I have not come across pain being associated with SMA as the condition involves a loss of motor neurons rather than sensory ones. Likewise it is not normally assocated with ALS, apart from cramping, spasms etc. However, there are exceptions and I have seen a number of references to ALS patients suffering pain symptoms. However, nothing like what you have described above
Kitchener

 

[InTheVoid]

bryant123martha,
When you got your SMA diagnosis was it a clinical one, or a genetic one? Did your diagnosis of SMA change when you showed UMN symptoms or did you get an ALS on top of your SMA?

 

[InTheVoid]

Hi everyone.
I had my Muscle Biopsy done on my right quadriceps Tues morning this week. My surgeon opted for an open incision Biopsy as apposed to a Needle Biopsy for reasons that he did not explain. I went to the ER around midnight on Tues with severe swelling and pain at the site of the incision. The next morning they sent me to see the surgeon who re-opened and removed two Loonie sized Haematomas (blood clots forming between my muscle and skin) and inserted a drain tube. He gave me Tylenol 3's for pain and an antibiotic. Both surgeries were done with a local anesthetic; how I wished he had put me under a general to remove the Haematomas! I actually snapped a few photos of the Haematoma removal, I found it fascinating! Anyway sorry for the visualization, my leg feels better today and I should recover just fine in a month or two I figure, although the rest of my body is killing my from using crutches and its only been two days! Also after the Biopsy I was sent home without pain meds but told to take acetaminophen, and they let me walk out 5 min after the procedure without crutches, which I feel is what contributed to the complication. I was not even told that I might need crutches. Unbelievable.

The reason for the Biopsy is to rule out disorders of muscles and I believe will show specific characteristics of atrophy in SMA. Is this true, or will people with ALS show the same characteristics of atrophy as in SMA because in both conditions the LMN die?

I found this on Spinal Muscular Atrophy - GeneReviews - NCBI Bookshelf :
"Muscle histology. Muscle biopsy reveals group atrophy of type 1 and type 2 muscle fibers, as opposed to the normal checkerboard pattern. Rare angulated and large type 1 fibers are scattered throughout."

Is a Muscle Biopsy something that is used to diagnose ALS? Or is it used just to rule out other conditions? Have any of you had Muscle Biopsies preformed? What was the pain like and how long was your recovery? There seems to be very little information out there.

 

[Kitchener]

Mate
Sounds like you've had a rough week. I'm guessing a Loonie is a dollar coin. I havent seen much commentary about muscle biopsies, and have no personal experience myself (nor am I going to volunteer for one, given your description!). The best person to talk to you about this is your doctor/pathologist. You've given them a chunk of your leg; they can certainly give you a chunk of their time to explain all your questions
Good luck with it
Kitchener

 

[InTheVoid]

Kitchener,
Good answer! Honestly, these are not important questions, just curiosities I have about how our bodies and muscles function. I should have went to med school! I don't think my doctor would go into as much detail as I would like so I snooped the Washington University's Neuromuscular Disease Centers website and found my answer. Turns out the biopsy should be pretty specific to who the culprit is.
My leg feels ten times better today and I can walk on it again, wont need the crutches for more than a few more days. I'm glad I had it done and it wasn't too bad, plus I love grossing people out with the photos I took!
You had mentioned that your waiting on test results for SMA, don't let my little rant discourage you from having a biopsy if your doctor suggests it, there are always risks but it's a very minor procedure.

 

[bryant123martha]

Hi,
I did have a biopsy but not any of the problems you had. I did walk out minutes later and didn't have any problem at all. I'm sorry to here you did. My EMG looks like SMA but I can't have it because the genetic testing was negative. My biopsy did show denervation confirming LMN issues. They did tell me a muscle biopsy can be very specific as to what you have but it may not. I am still struggling for answers one doctor said I have PMA turning into ALS another wants me to get tested for Kennedy's disease (X link) and I am a female this is very rare for females.

 

[Kitchener]

One of the most frustrating things about the group of motor neuron diseases including ALS is that there are few if any definitive tests (SMA apparently being an exception, although as we have seen from this thread even that's not black and white). As I understand it, a muscle biopsy will give information as to the pattern of atrophy in affected muscles - apparently ALS creates a characteristic chequerboard pattern and hence can be detected. Once again, if it were that simple then ALS would be easy to diagnose and all we would have to do is queue up and get a slides' worth of flesh removed from our bodies. Unfortunately this whole thing seems like a jigsaw without the box, where the more pieces you have the more chance of telling what the picture is. For those that want to know, this means a seemingly endless procession of tests. In my case MRI, lumbar puncture, EMG x3, genetic tests, gallons of blood etc etc. It can also mean varying diagnoses and even hypotheses by one's neuro. For all of us in the "unkown zone", I'm sure the experience is similar. Maybe it's better not to know. However, I personally believe that it's much better to be uncertain about a bad outcome than certain about it.
Kitchener