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meredithcreation

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Hi all,

I'm Meredith and I'm trying to help a dear friend get an accurate diagnosis. I happen to have a daughter with a neuromuscular disease called Bethlem Myopathy and I have found that the best information often comes from other people going through the same thing....

My friend Judy is 70 years old and was an athlete and in generally good health. About 18 months ago, she started having trouble with her right foot. Over about 6 to 9 months, she developed foot drop in this foot. She can extend the foot, but cannot flex it. She has no pain in the foot, but with lack of use the muscle is wasting and the opposite muscle/tendons have been tightening. The blood tends to pool in her foot, so the skin often looks red/purple. I think she does not have sensation on the top of the foot and maybe shin.

She has seen a couple of neurologists and finally, at my urging, a rheumatologist recently. She has had a couple EMGs, an MRI of her brain, and MRI and/or CT of her spine. She was found to have some spinal stenosis, I think in the lumbar region, but the neurosurgeon did not think it significant enough to be causing her foot drop, nor to be worth operating on. Her EMGs and I think an NCV ruled out Myasthenia Gravis and were apparently highly suggestive of MND. The rheumatologist ruled out Sjogren's and does not think vasculitic mononeuropathy is likely (not sure why...this was high on my "rule out" list for Judy).

I'm not sure why, but one neuro put her on gamma globulin infusions over the winter. She did not get better, but neither does she appear to have gotten worse.

3 EMGs over 6 months have not shown progression, nor does she appear to have had any other progression since the foot drop developed, so over maybe the past 9 to 12 months. Her other leg is fine, her arms are fine, and her speech and swallowing are fine.

She is, however, struggling with hip and back pain and limping which she attributes to trying to get around with the drop foot over time. Someone made her a crappy orthotic which has a foot-long bottom that is longer than her foot (!) and the metal sides that go up her shin and a strap that velcros to her shin. It is in a fixed 90 degree angle. Because it's so long, she can't get her normal shoe size and I'm encouraging her to at least get the darn thing cut back!

One sign of possible progression that she has revealed to me recently is painless muscle twitching in the thigh of the affected right leg. She attributes the muscle twitching to the limping and the gymnastics she does to walk with her drop foot...I'm not so sure, now, having read more about ALS and PMA.

The local "go to guy" for ALS does think she has ALS and has started her on Riluzole which she is tolerating well, at least.

Judy has no facility with the computer or the internet and her family has no ability to help her navigate the medical maze, so I have been trying to help her as best I can. I have a number of questions, if anyone can give some feedback/guidance...in no particular order:

Any thoughts on/experiences with progression, or the lack thereof, and what it means for diagnosis? My layman's understanding of ALS is that it is typically quite rapidly progressive and if Judy had "classic" ALS, she would probably have had some significant progression, especially to her left leg, by now. This is why I am wondering if her presentation fits PMA more closely?

Any experiences with Riluzole and PMA? My guess is that "it couldn't hurt/might help." Is that a good guess?

Any suggestions for ruling out other diseases/conditions that might account for her foot drop?

Any suggestions for her orthotic? My daughter has had SMOs for years and years and I'm very disgusted by this orthotic that was made for her. Any experiences/suggestions for what would be more effective?

Any suggestions about physical therapy? PT has been recommended to help her walk without so much pain...she has been seeing a chiropractor first, then will start PT in a week. I don't think chiro has done anything for her, but a good friend of hers recommended this guy.

I have the sense that Judy is rather old for onset of ALS/PMA...anyone else have first symptoms at age 70-ish?

Thanks so much,

Meredith
 

crystalkk

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Meredith,

I sorry for what your friend is going through... What do you mean by the "local go to guy" for ALS.
Has she seen an actual ALS specialist? Do you know who she is seeing?
 

meredithcreation

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She has seen Leo McClusky at Pennsylvania Hospital. She says he's very nice and all, but I'm less than impressed with the medical rule out he has done before concluding that she has ALS. The rheumy suggested a nerve biopsy and he said he didn't want to do one. He did start her on Riluzole, but I don't get the sense that he has given her much more help/advice. He just said something about a "slowly progressive form of ALS" without really any other details.

Because of my daughter with a neuromuscular disease, I know a bit about the various MDA diseases and I had never heard of a "slowly progressive form of ALS." Researching more recently, I came across PMA. I'm not even clear if "they" (meaning the doctors) consider PMA a diagnosis, or form of ALS or what. It sounds more like Judy's symptoms than ALS, assuming the docs are correct that she has "some kind of motor neuro disease."

It says you are in Philly? Do you see McClusky? Do you have anyone else to recommend? Also, do you have any good experience with an orthotist? Judy went to a branch of Hanger and what they did was just terrible!

Thanks so much!

Meredith
 

crystalkk

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Meredith,

In my opinion Dr McCluskey would not say ALS unless he was absolutely sure. In order to be diagnoseded with ALS you have to have upper motor nueron stuff going on (brisk reflexes, clonus, babinski, stiffness) which is in the clinic exam. PMA is just lower motor nueron stuff.
If she did not have UMN stuff going on he would have diagnosed her with PMA if her EMG is indicative of motor nueron disease.
PMA is a sister disease of ALS. He has diagnosed others on the forum with PMA. She is procressing slowly which is a good thing, everyone progresses differently.

If she wants to get another opinion and she should when it comes to something like this.....
there is another ALS clinic at Drexel the director is Terry-Hiemann-Patterson, it is across from Hanamann Hospital on Broad and Race.

Has she joined the ALS foundation and the MDA.

I don't know of any orthotist.

Was she just diagnoseded? Has she been to a clinic visit yet?

She is very lucky to have a friend like you looking out for her....
 

hopingforcure

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Like Crystal said this is a doc often seen by many of the patients from the Philly area. You could also try Dr. Simmons at Hershey Medical Center, Hershey PA. I am sorry her brace is not working well. I agree tha the doc is probably pretty sure from the results of the emg and clinical exam of the diagnosed. although a second opinion is always helpful. Sorry you have to join us, but you sound like a great friend, and sound like a helpful would be a great help.
 

mare

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Hi, Meredith-

First, you are a great friend to be so concerned for Judy. I would think she is very thankful for your efforts to help.

The first "rule" about ALS is there are no rules! Every patient is different; they may have overlapping symptoms, but no 2 people will be exactly alike. Same goes for progression- forget what you read on the internet. There are many members here who have had ALS for years. And, although the average age of onset is 40- 60 yrs.; that varies greatly as well. There has been a 16 & 18 yr. old mentioned here, and just recently a post was made by a daughter whose 79yr. father was just diagnosed. So, throw that out the window.

My husband sees Dr. McCluskey as well, and I agree with Crystal that he would not give that diagnosis unless he was sure. It seems as though she has had all the tests to r/o any other conditions. The lack of doing the nerve biopsy is because whatever he saw on the NVC & EMG told him he didn't need it.

You didn't say if he was the one who ordered the IVIG therapy, but even still that was one more way to r/o things like multifocal motor neuropathy or CIDP, which are treatable. My husband tried that; it did not help but it was worth the try. Another reason to show that everything is tried and checked before giving an ALS diagnosed.

I'm surprised you said he said "slowly progressive form of ALS without any other details." He spent 2hrs. with us on our first visit, where he did the clinical exam; the next he did the EMG, and spent another 2hrs. slowly explaining in detail about the disease and stopping to ask for questions we had. He was the most compassionate, warm and caring dr. I have ever met! (and I am an RN)

Did she have a relative with her? Maybe he sensed she was overwhelmed and not taking it all in. Will she continue to see him at that clinic? If so, the whole team will help her and relative/friend (you?) navigate the medical maze. Believe me, they will give all the help needed.

I'm wondering who suggested the physical therapy? Usually the PT's at the clinic will give a list of stretching to do, but they want you to stay away from any strengthing.
Has anyone suggested a cane for her to use? This helped my husband early on.
The AFO's (orthotics) definitely help with the foot drop; but if they don't fit right, that's a problem. She should call where she got them made and have the adjustment; you're right- they should at least be cut to size. I know when my husband got his, he was told he could come back for any adjustment he needed. Even though he's not crazy about wearing them, he doesn't leave the house without them. They definitely help with his balance. That in itself would cause hip & back pain.

And, as Crystal also said, check with MDA & ALSA association. You can go to their websites and order various pamphlets and books, that are free of charge to patients. She will get plenty of infomation.

Continue your advocacy for her, and continue you friendship for her to lean on.
 

meredithcreation

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Thanks to all for the feedback...I would hope that Dr. McClusky wouldn't say "it's ALS" unless he was certain, but at the time he first said it, Judy had not had an MRI of the brain or some other medical rule out stuff. He may have mentioned PMA and Judy was too overwhelmed to catch it, but she's pretty sharp and constantly asks docs to write things down for her, so I'm dubious. I'll definitely ask her next time I see her!

I am pretty certain that she does not have any upper motor neuron signs...my husband is an internist and she has asked him some questions and he has done a little informal exam and so far, I don't think there is any upper motor neuron stuff. The only "progression" of which I am aware is the muscle twitching in the thigh of the affected leg.

The PT was recommended by the rheumatologist to help with the pain she has been having from limping around. She has started using a cane, which I think does help some. I think the hope is that PT will help with working on her gait so she can walk more efficiently and without stressing the muscles that are sore. It makes sense to me...I managed to damage a nerve in my leg when I had my first daughter and when limping around from it, I developed a bursitis in the opposite leg from compensating!

I am trying to get her to get that stupid AFO fixed up...it makes me mad that it's so obviously big for her foot!

I will suggest the Drexel ALS clinic, in case she wants to have another opinion...thanks.

Meredith
 

crystalkk

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Meredith,

Did Judy go to her appointment alone?
 

meredithcreation

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I think a friend went with her to the appointment, but someone her age and I don't know if she sat in or just drove her downtown. I don't know if Judy would feel comfortable with me coming with her in the future, but I can make the offer if she seems interested/amenable. She doesn't want to put any one out and I don't want to embarrass her...I can at least give her a list of questions, as I have been doing!

Meredith
 
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