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Annaeliza

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Joined
Jul 21, 2018
Messages
10
Reason
Friend was DX
Diagnosis
07/2018
Country
US
State
TX
City
Fort Worth
Hello,
I am writing on behalf of a friend of mine who was diagnosed first with Stiff Person Symdrome (1/2018) and now this week has been given a new diagnosis of ALS. Symptoms began in August of 2017 and have been swift in progression. Frequent falls, cramps at night (or sensation of needing to stretch), twitching all over, right hand stiffening and weak with limited grip. She progressed from walker to wheelchair in 9 months and is 42yrs old.

My question is - Does anyone know of ALS diagnosed persons who also showed high anti-GAD numbers? It’s a marker for Stiff Person Syndrome and a few other autoimmune conditions. I’ve just never come across anything to help explain how this test result fits with ALS. For six months, the anti-GAD result was really the only significant abnormal test result.

Thx for any help or suggestions.
 
I did a search for conditions associated with GAD (glutamic acid decarboxylase). This is from the Wikipedia article. There was no mention of any known associations between GAD and ALS/ MND.

1. Diabetes
Both GAD67 and GAD65 are targets of autoantibodies in people who later develop type 1 diabetes mellitus or latent autoimmune diabetes.

2. Stiff person syndrome
High titers of autoantibodies to glutamic acid decarboxylase (GAD) are well documented in association with stiff person syndrome (SPS).

3. Schizophrenia and bipolar disorder (Schizophrenia is associated with decreased levels of GAD67

4. Parkinson disease
The bilateral delivery of glutamic acid decarboxylase (GAD) by an adeno-associated viral vector into the subthalamic nucleus of patients between 30 and 75 years of age with advanced, progressive, levodopa-responsive Parkinson disease resulted in significant improvement over baseline during the course of a six-month study.

5. Cerebellar disorders

6. Neuropathic pain
Peripheral nerve injury of the sciatic nerve (a neuropathic pain model) induces a transient loss of GAD65 immunoreactive terminals in the spinal cord dorsal horn.

7. Other Anti-GAD-associated neurologic disorders:
Antibodies directed against glutamic acid decarboxylase (GAD) are increasingly found in patients with other symptoms indicative of central nervous system (CNS) dysfunction, such as ataxia, progressive encephalomyelitis with rigidity and myoclonus (PERM), limbic encephalitis, and epilepsy. The pattern of anti-GAD antibodies in epilepsy differs from type 1 diabetes and stiff-person syndrome.
 
Thanks Karen for your time. The new diagnosis does not add up for me- but I have not looked over all the tests that were done this week. My friend was at a university hospital and they were thorough in their testing, but I think their reasoning for diagnosing her with ALS was more because they excluded everything else. When I get to see her medical records (from this recent hospital stay), I will post again and see if it makes more sense.
 
Hi Karen,
I posted a quick reply, but don’t see it. Need to learn the system, I suppose. Anyway, Thank you for your time in researching this. I agree with your findings- can’t see any links of anti-GAD to ALS. It’s like the new doctors are disregarding this finding. When I get more of the test results from this week (while in hospital), I will post them as I want to understand why the doctors switched gears. Thanks again!
 
If they diagnosed her with ALS, I’m assuming her EMG showed characteristic abnormalities, in addition to a suspicious physical exam.

It would be helpful if you are able to post the EMG results.

Sometimes blood tests can be false positives. It’s possible the GAD was a red herring. Though maybe not...

When in doubt, it doesn’t hurt to get a second (or third) opinion. But do post those EMG results if you can.
 
Hi Karen,
I’m attaching a jpeg file which shows the summary results of my friends EMG. If useful, I can post the whole report.

My friend has been transferred to a rehab facility. There seems to be differing opinions or uncertainty about her diagnosis. Her chart does state ALS now-but the people at the rehab facility are saying they aren’t sure.

She apparently used her walker yesterday for therapy. Her right hand is very weak with grip and grasping issues. Anyway, I would appreciate your, or others, opinion on the EMG results. If there are any non typical ALS findings (in your experience), please let me know. Thanks again.
 

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EMG certainly sounds suspicious for ALS. I know SPS can give an abnormal EMG, but I don’t think it would show the same pattern of denervation/ reinnervation that we see with ALS.

Since she was seen at a University medical center, I suggest you ask the neuromuscular specialist if they think there is any significance to the GAD antibodies or if it is just a red herring.

Sorry you and your friend are in this situation.
 
Thanks for weighing in on the EMG. She has asked about the GAD antibodies and I think that is why there is still mixed messages on the diagnosis. Unfortunately, they moved her from the university hospital, but I’m hopeful she will have on going communication with that team.

I’ll update if any new information is shared. Thanks again.
 
How high are we talking? Was the pattern more typical of epilepsy or autoimmunity? How long ago was the test repeated? As this paper suggests, anti-GAD antibodies do not necessarily mean anything at all.

As Karen notes, unfortunately the EMG report (though the full set of tables would be nice, too) is consistent with ALS. So if the clinical picture agrees and is no longer consistent with SPS, and if this single test result is the only reason for withholding a definitive diagnosis after two different docs at different institutions were consulted, then it would seem to wise to act on the hypothesis that this is ALS until shown otherwise.

But if she has not as yet had a second fresh set of eyes on all the data and a second outside exam, that should certainly happen.

Best,
Laurie
 
Thank you Laurie for the link to that article. I have saved the article and will share with my friend. I’m very interested in how hypothyroidism and family history of diabetes relate (or don’t relate) to the anti-GAD antibodies. The article discusses this and I’ll just need to read it a few more times to understand it!

I’m hoping to see her tomorrow and discuss having another doctor review all her records and weigh in on the competing opinions.

As far as the EMG tables, I’m attaching two more jpeg’s with the data her medical records provide. As of now, I don’t have the actual graphs of the EMG- but the data points observed are listed below.

Thank you so much. EMG ‘s are very confusing to me. One question I have is - does this EMG show an SPS related typical pattern of continuous low frequency firing of normal motor units or continuous motor unit activity (CMUA) found simultaneously in agonist and antagonist muscles of the affected region? Is this continuous firing of motor units found in ALS?
 

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Ugh. Sorry Laurie, I misread your question about “how high the numbers are” to mean the EMG data. I think you were referring to her anti-GADantibodies. I have seen different scales for this number- but here is the data from her test result:
 

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Checking back in after a visit to the rehab facility that my friend is staying at. Apparently, the neurologist at the University hospital does think it’s ALS and sent her to rehab and home from there with recommendations for a hospital bed, etc.

A neuro that sees her in the rehab facility has recommended that my friend see a different neurologist soon because he indicted that he doesn’t think her condition is like Stiff Person Syndrome or ALS.

Essentially, in August of last year, my friend remembers bending over to pick up a package and hurting her back. It wasn’t a significant problem, but she was sore for a few days. By October, she was starting to trip and fall, her legs were stiff-like, her right knee hyperextending some and she had to consciously think about lifting her foot up or wait for that to happen before she could take a step forward. Eventually, it was affecting both her legs. Each step takes a very long time. If she is encouraged to go quicker or assistance provided, it’s like her legs freeze up and it’s takes even longer.

Now her arms are involved. She can’t raise her arms very high (can’t reach her head to scratch). Her only pain is when she is helped up to standing and if the aides pull up on her arms. Her hands are curled and weak (she has a modified touch call button for nurses due to her weakness.)

Her speech and swallowing is also now affected. She has to be careful when drinking fluids.

She has a history of hypothyroid (TSH levels got very high before onset of symptoms). She is now on thyroid medication and has been since before she began falling. There are numerous other labs and scan results, but none apparently are believed to be causing her issues, including a significant copper deficiency. And I have already posted about her Anti-GAD antibodies.

Basically, I’m wondering if ALS progresses this quickly? First falls in October of last year (9 months)? I’m not sure if I’m describing this right but she has little to no muscle control in her legs, arms and hands. And muscle control issues with swallowing and speech also now noted. Thank you for any input!
 
Are either of these neuros neuromuscular specialists?

Regarding progression rates. They vary. I have heard of a family with genetic ALS where people went from fine to dead in 2-3 months. Fast progression of under a year is not that uncommon unfortunately so yes 9 months is not unheard of.

Very sorry
 
I would make an appointment to see a neuromuscular specialist. Most general neurologists see very little ALS in comparison. My local neuro is great but he admitted that he wasn't able to clearly interpret the first EMG he did. He just knew it was not clean and sent me to Mayo Clinic. If she has other injuries/conditions, this only makes the EMG harder to interpret so I understand two neuros who are not ALS specialists possibly disagreeing on her diagnosis.
 
Thank you, Nicki. I understand that the neurologist from the university hospital was specialized. She essentially told my friend the diagnosis was based on EMG and not finding any other explanation for her symptoms and progression. My friend isn’t very impressed with the brief explanation and isn’t convinced in general about ALS. The other neuro is doing rounds at the rehab facility and recommended a different specialist to give what will be a third opinion....(1) in January -SPS, 2) in July- ALS, 3) third appointment with new specialist yet to take place,
 
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