Diagnosed with stiff man syndrome?

debbiehub · 01-25-2013, 05:08 PM

Quote:

Originally Posted by fmichael

Dear Debbie -

Understand that concern about the GAD65 in your blood-work. But I necessarily jump to wouldn't jump to any conclusions over it, especially where the I only understanding that there are only palliative therapies for Stiff Man/Person Syndrome (hereinafter SPS), and I've been on two of the biggies for yours for the spasms associated with CRPS: (1) CNS-focused muscle relaxants, e.g., Balcofen, and (2) benzodiazepines such as Xanax.

And here's the deal, as recently as 2008, articles were being published to the effect that "Analysis by LIPS of 40 sera samples from SPS and control subjects for anti-GAD65 antibodies revealed dramatic titer differences allowing diagnosis of SPS with 100% sensitivity and 100% specificity." High definition profiling of autoantibodies to glutamic acid decarboxylases GAD65/GAD67 in stiff-person syndrome, Burbelo PD, Groot S, Dalakas MC, Iadarola MJ, Biochem Biophys Res Commun. 2008 Feb 1;366(1):1-7.

But now we know that anti-GAD65 antibodies are found in a number of conditions, on account of which any claim of "100% specificity" of a diagnosis of SPS. See, e.g., URL="http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3411186/"]GAD65 autoantibodies and its role as biomarker of Type 1 diabetes and Latent Autoimmune Diabetes in Adults (LADA)[/URL], Towns R, Pietropaolo M, Drugs Future. 2011 Nov;36(11):847; AND GAD65 Positive Autoimmune Limbic Encephalitis: A Case Report and Review of Literature, Sharma A, Dubey D, Sawhney A, Janga K, J Clin Med Res. 2012 Dec;4(6):424-8.

Indeed, there has also been discussion is recent literature suggesting that earlier research may have inverted the causalities altogether, on account of which increased levels of GAD65 may be the result and not the cause of neuro-ischemic pain and spasticity conditions in general. Compare,
Epigenetic suppression of GAD65 expression mediates persistent pain, Zhang Z, Cai YQ, Zou F, Bie B, Pan ZZ, Nature Medicine 2011 Oct 9;17(11):1448-55, with, Combinational spinal GAD65 gene delivery and systemic GABA-mimetic treatment for modulation of spasticity, Kakinohana O, Hefferan MP, Miyanohara A, Nejime T, Marsala S, Juhas S, Juhasova J, Motlik J, Kucharova K, Strnadel J, Platoshyn O, Lazar P, Galik J, Vinay L, Marsala M,
PLoS One Epub 2012 Jan 23.

And, for a general statement of that proposition - which I would encourage you to share with your doctors, see, generally, Calpain cleavage of brain glutamic acid decarboxylase 65 is pathological and impairs GABA neurotransmission, Buddhala C, Suarez M, Modi J, Prentice H, Ma Z, Tao R, Wu JY, PLoS One. Epub 2012 Mar 12.

But lets make this easy. Check out the Wikipedia article on Stiff person syndrome . Here's what it list as the symptoms:

People with stiff person syndrome tends to present in 3 different stages: early, late and end stage. In the early stages, there are few objective findings indicating SPS during the initial assessment. SPS will begin insidiously in the axial muscles. Patients will present with an exaggerated upright posture and have stiffness and pain in the whole back. Sleep disturbances are also common due to muscle spasms waking them. In the late stages, proximal limb muscle become involved and the patient tends to move slower as fast movements will cause the severe spasms. Emotions such as anger have been shown to have a link to causing the spasms, which begin in this stage. Exaggerated lumbar lordosis becomes more evident in the patients. Depression can be comorbid with SPS at this stage due to the patient’s quality of life decreasing. In the end stage, activities of daily living such as eating and simple movements become hard to perform. Skeletal fractures and muscle ruptures occur quite often along with joint deformities. [Footnotes omitted.]

Funny, but I don't see a lot of references to disproportionate and/or burning pain, edema, discoloration, skin temperature changes across the body, etc.

Debbie - You and I have been on these forums for a long time. And I can pretend I recall every post you've put up along the way, but I have to think that a number of your complaints had nothing to do with SPS. IF AND ONLY IF that is the case, then I suspect it's probably more appropriate to consider your elevated levels of GAD65 as the EFFECT if your pain, spasm and rigidity, rather than the other way around.

I hope this is useful.

Mike

Hey mike,

Thanks for your input..here's the.

debbiehub · 01-25-2013, 05:13 PM

[QUOTE=debbiehub;950876]Hey mike,

Thanks for your input..here's the thing. I have full body muscle atrophy worsening each day. My legs r getting so thin and weak and arms r fatiguing quickly. So if I do have some autoimmune disease maybe the retuxemb iv will halt it,,,at the rate I'm going I have to try something....not sure what else I can do?

Ty
Deb

fmichael · 01-25-2013, 07:54 PM

Quote:

Originally Posted by debbiehub

Hey mike,

Thanks for your input..here's the thing. I have full body muscle atrophy worsening each day. My legs r getting so thin and weak and arms r fatiguing quickly. So if I do have some autoimmune disease maybe the retuxemb iv will halt it,,,at the rate I'm going I have to try something....not sure what else I can do?

Ty
Deb

Debbie -

I completely understand. I know rheumatologists who regularly prescribe Remicade (Infliximab) for CRPS and understand that Rituxan (Rituximab) is just one more step down the same path. Nevertheless, I choose not to try Remicade because of the possible side effects (lymphoma) where I already carry a precursor to multiple myeloma, and my "quality of life" even with CRPS was not so dire that I was willing to roll the dice. But from everything I've heard from you in the last few months, your situation is pretty miserable as is.

That said, may I ask if your MD has fully advised you of the current FDA-mandated "Black Box Warning" for Rituxan? I ask only because - at least as of the last time I checked - it beats that of Remicade by a fair piece:

Some people who received rituximab experienced severe reactions to the medication. Some of these people died within 24 hours after they received a dose of rituximab. Most of these deaths happened after the first dose of rituximab. Tell your doctor if you have or have ever had chronic lymphocytic leukemia (CLL; a type of cancer that begins in the white blood cells), mantle cell lymphoma (a fast-growing cancer that begins in the cells of the immune system), an irregular heartbeat, or heart or lung disease. If you have any of these conditions, or if you are female, there is a greater chance that you will experience a serious reaction to rituximab. If you experience any of the following symptoms, tell your doctor or other health care provider immediately: hives; swelling of the lips, tongue, or throat; difficulty breathing or swallowing; dizziness; fainting; shortness of breath, wheezing; blurred vision; headache; pounding or irregular heartbeat; fast or weak pulse; loss of consciousness, fast breathing; pale or bluish skin; pain in the chest that may spread to other parts of the upper body; weakness; excessive tiredness; sweating; or anxiety.

When rituximab is used to treat non-Hodgkin's lymphoma (NHL; a type of cancer that begins in a type of white blood cells that normally fight infection) it may cause a condition called tumor lysis syndrome (TLS; a group of symptoms caused by the fast breakdown of cancer cells). TLS may cause kidney failure and the need for dialysis treatment. Tell your doctor if you are also receiving cisplatin (Platinol). If you notice that you need to urinate less often than usual or that you produce less urine than usual, tell your doctor immediately.

Rituximab has caused severe skin reactions. These reactions have caused death. If you experience any of the following symptoms, tell your doctor immediately: painful sores, ulcers, blisters, rash, or peeling skin.

Some people who received rituximab developed progressive multifocal leukoencephalopathy (PML; a rare infection of the brain that cannot be treated, prevented, or cured and that usually causes death or severe disability) during or after their treatment. If you experience any of the following symptoms, call your doctor immediately: difficulty thinking clearly or walking, loss of strength, vision problems, or any other unusual symptoms that develop suddenly.

Talk to your doctor about the risks of using rituximab. [Emphasis added and 'right on' re the last sentence.]

http://www.nlm.nih.gov/medlineplus/d...s/a607038.html

So, at a minimum, I would STRONGLY recommend that, before initiating treatment, you be "worked up" for (1) chronic lymphocytic leukemia, (2) mantle cell lymphoma, (3) irregular heartbeat (sinus rhythm) - a simple EKG should due the trick - AND (4) "other" heart or lung diseases. This should probably include a simultaneous/concurrent "CT angiogram" and a CT scan of your lungs - which would at least minimize your radiation exposure - along with an echo-cardiogram and a pulmonary function study of some sort, to rule out asthma, etc.; I assume with your recent blood-work they've already ran a metabolic panel as well, just to check on your current kidney function, for whatever good that may do.

I do not mean to be alarmist, but the Black Box Warning for Rituxan is as heavy as anything I've ever read. So if it sounds like I'm suggesting what could turn into a two-day battery of essentially non-stop testing, it's because I am.

Mike

debbiehub · 01-26-2013, 09:36 AM

Quote:

Originally Posted by fmichael

Debbie -

I completely understand. I know rheumatologists who regularly prescribe Remicade (Infliximab) for CRPS and understand that Rituxan (Rituximab) is just one more step down the same path. Nevertheless, I choose not to try Remicade because of the possible side effects (lymphoma) where I already carry a precursor to multiple myeloma, and my "quality of life" even with CRPS was not so dire that I was willing to roll the dice. But from everything I've heard from you in the last few months, your situation is pretty miserable as is.

That said, may I ask if your MD has fully advised you of the current FDA-mandated "Black Box Warning" for Rituxan? I ask only because - at least as of the last time I checked - it beats that of Remicade by a fair piece:

Some people who received rituximab experienced severe reactions to the medication. Some of these people died within 24 hours after they received a dose of rituximab. Most of these deaths happened after the first dose of rituximab. Tell your doctor if you have or have ever had chronic lymphocytic leukemia (CLL; a type of cancer that begins in the white blood cells), mantle cell lymphoma (a fast-growing cancer that begins in the cells of the immune system), an irregular heartbeat, or heart or lung disease. If you have any of these conditions, or if you are female, there is a greater chance that you will experience a serious reaction to rituximab. If you experience any of the following symptoms, tell your doctor or other health care provider immediately: hives; swelling of the lips, tongue, or throat; difficulty breathing or swallowing; dizziness; fainting; shortness of breath, wheezing; blurred vision; headache; pounding or irregular heartbeat; fast or weak pulse; loss of consciousness, fast breathing; pale or bluish skin; pain in the chest that may spread to other parts of the upper body; weakness; excessive tiredness; sweating; or anxiety.

When rituximab is used to treat non-Hodgkin's lymphoma (NHL; a type of cancer that begins in a type of white blood cells that normally fight infection) it may cause a condition called tumor lysis syndrome (TLS; a group of symptoms caused by the fast breakdown of cancer cells). TLS may cause kidney failure and the need for dialysis treatment. Tell your doctor if you are also receiving cisplatin (Platinol). If you notice that you need to urinate less often than usual or that you produce less urine than usual, tell your doctor immediately.

Rituximab has caused severe skin reactions. These reactions have caused death. If you experience any of the following symptoms, tell your doctor immediately: painful sores, ulcers, blisters, rash, or peeling skin.

Some people who received rituximab developed progressive multifocal leukoencephalopathy (PML; a rare infection of the brain that cannot be treated, prevented, or cured and that usually causes death or severe disability) during or after their treatment. If you experience any of the following symptoms, call your doctor immediately: difficulty thinking clearly or walking, loss of strength, vision problems, or any other unusual symptoms that develop suddenly.

Talk to your doctor about the risks of using rituximab. [Emphasis added and 'right on' re the last sentence.]

http://www.nlm.nih.gov/medlineplus/d...s/a607038.html

So, at a minimum, I would STRONGLY recommend that, before initiating treatment, you be "worked up" for (1) chronic lymphocytic leukemia, (2) mantle cell lymphoma, (3) irregular heartbeat (sinus rhythm) - a simple EKG should due the trick - AND (4) "other" heart or lung diseases. This should probably include a simultaneous/concurrent "CT angiogram" and a CT scan of your lungs - which would at least minimize your radiation exposure - along with an echo-cardiogram and a pulmonary function study of some sort, to rule out asthma, etc.; I assume with your recent blood-work they've already ran a metabolic panel as well, just to check on your current kidney function, for whatever good that may do.

I do not mean to be alarmist, but the Black Box Warning for Rituxan is as heavy as anything I've ever read. So if it sounds like I'm suggesting what could turn into a two-day battery of essentially non-stop testing, it's because I am.

Mike

Thanks for your input. Yes, they have me going for bloodwork. cardiologist, and chest x-ray. I think my neuro is pretty up to date on this drug. he is a well known MS Doc....Its going to take a while to get insurance or donation from the manufacturer because it is an off label use.

Debbie

fmichael · 01-26-2013, 12:33 PM

Quote:

Originally Posted by debbiehub

Thanks for your input. Yes, they have me going for bloodwork. cardiologist, and chest x-ray. I think my neuro is pretty up to date on this drug. he is a well known MS Doc....Its going to take a while to get insurance or donation from the manufacturer because it is an off label use.

Debbie

Debbie -

Very happy to hear you're getting a good medical work-up before going on Rituxan.

Just curious. Has anyone explained to you how (or if) SPS is distinguish from dystonia? (The latter of which - even if relatively rare - is a still too frequent side-effect of CRPS?) From what I was reading last night, they both pretty much come out the same in the wash, including having strong GABA-genic components. Then too, neither appears to be associated with muscle wasting, whether or not due to appetite suppression, suggesting the operation of another player, such as cachexia, very possibly induced by the same underlying condition.

More later, running late for a school meeting.

Mike

PS Please see the corrections - in bold - to my earlier "GAD65, cause or effect?" post. I had been up all night and misread what was then your immediately preceding post. Txs.

Neurochic · 01-26-2013, 06:02 PM

Debbie

The questions FMichael is asking is why I was asking in my early posts about exactly why and how the doctors had arrived at their suggested diagnosis of SPS. It's why I was encouraging you to go back and ask for a full and detailed explanation of how they might have arrived at this diagnosis because dystonia is common with CRPS and it has to be ruled out before a diagnosis of SPS can be reached.

I had assumed that in getting to the stage of suggesting SPS, your doctor had already ruled out the much more clinically likely prospect of dystonia, possibly combined with other movement disorders associated with CRPS like myoclonus. You have been posting about your muscle wasting for such a long time and i was under the impression that this was something your doctors were already involved in looking into. Dystonia can cause muscle atrophy but it is largely due to lack of ability to functionally use the muscles because of the movement problems.

The differential diagnosis is based on clinical examination, testing and physician experience. I am not a neurologist but your should be able to explain to you how and why they have been able to rule dystonia/SPS and the myriad of other neurological conditions that cause very similar symptoms in or out. He or she should be able to do that by reference to your individual presentation.

You mentioned muscle dystrophy in your last post. Muscle dystrophy isn't the same as muscle atrophy - muscle dystrophy is the process by which muscle cell death occurs. Unlike atrophy, it isn't reversible. It's one of the reasons that the old name for CRPS was dropped because the 'dystrophy' part was misleading. There are relatively few people diagnosed who actually undergo muscle death although muscle atrophy is relatively common.

I think I asked this before and I'm not making a judgement but if you aren't very physically active you will experience quite significant muscle atrophy and weakness all over your body and you will also have pain and stiffness when you do try to move. Muscle mass is lost at an average rate of 4% per week when activity levels fall. Dystonia, SPS and other similar conditions have symptoms that go way beyond atrophy, stiffness, pain on movement and weakness.

I'm only saying all this in case you are perhaps in the care of a physician who is trying something because he or she feels stuck with nothing to offer or isn't sufficiently experienced in this area. You may be embarking on a treatment option that has potentially horrific side effects for no good reason. SPS is a very rare, terminal condition, its not like CRPS (however bad we think that is) and although you've not posted much information, I really think the more I hear, the more you need to stop and take stock before you go through with this.

Having been in the position you are with suspected SPS and feeling desperate, I know its hard but you need to be clear about what has happened so far and how you've got to this point before you go any further. Just my opinion.

debbiehub · 01-26-2013, 11:13 PM

Quote:

Originally Posted by Neurochic

Debbie

The questions FMichael is asking is why I was asking in my early posts about exactly why and how the doctors had arrived at their suggested diagnosis of SPS. It's why I was encouraging you to go back and ask for a full and detailed explanation of how they might have arrived at this diagnosis because dystonia is common with CRPS and it has to be ruled out before a diagnosis of SPS can be reached.

I had assumed that in getting to the stage of suggesting SPS, your doctor had already ruled out the much more clinically likely prospect of dystonia, possibly combined with other movement disorders associated with CRPS like myoclonus. You have been posting about your muscle wasting for such a long time and i was under the impression that this was something your doctors were already involved in looking into. Dystonia can cause muscle atrophy but it is largely due to lack of ability to functionally use the muscles because of the movement problems.

The differential diagnosis is based on clinical examination, testing and physician experience. I am not a neurologist but your should be able to explain to you how and why they have been able to rule dystonia/SPS and the myriad of other neurological conditions that cause very similar symptoms in or out. He or she should be able to do that by reference to your individual presentation.

You mentioned muscle dystrophy in your last post. Muscle dystrophy isn't the same as muscle atrophy - muscle dystrophy is the process by which muscle cell death occurs. Unlike atrophy, it isn't reversible. It's one of the reasons that the old name for CRPS was dropped because the 'dystrophy' part was misleading. There are relatively few people diagnosed who actually undergo muscle death although muscle atrophy is relatively common.

I think I asked this before and I'm not making a judgement but if you aren't very physically active you will experience quite significant muscle atrophy and weakness all over your body and you will also have pain and stiffness when you do try to move. Muscle mass is lost at an average rate of 4% per week when activity levels fall. Dystonia, SPS and other similar conditions have symptoms that go way beyond atrophy, stiffness, pain on movement and weakness.

I'm only saying all this in case you are perhaps in the care of a physician who is trying something because he or she feels stuck with nothing to offer or isn't sufficiently experienced in this area. You may be embarking on a treatment option that has potentially horrific side effects for no good reason. SPS is a very rare, terminal condition, its not like CRPS (however bad we think that is) and although you've not posted much information, I really think the more I hear, the more you need to stop and take stock before you go through with this.

Having been in the position you are with suspected SPS and feeling desperate, I know its hard but you need to be clear about what has happened so far and how you've got to this point before you go any further. Just my opinion.

The reason he is going w sps is due to my symptoms and elevated gad65. I am not sure if I have md or atrophy. My legs and arms r getting thin and weak despite my almost daily pool exercise . Every day I do less because I'm so weak. It is difficult for me to hold a book without straining my arms and back, when I swim I can't turn my head to breath bc my back goes into spasms. I can no longer kick my legs in the pool. The muscle atrophy/dystrophy is very painful. I am also dealing w the rsd pain. I feel like no dr has been able to make sense of this and I am running out of time. The retuxemb won't be happening for a few months bc of insurance issues... Thanks for your input,,keep it coming!

Debbie

mommystime2 · 03-12-2016, 09:14 AM

My pcp has done a questionable diagnosis of sps on me but still waiting on neurological appt to confirm or ro, my gad was neg tho, but can be false positive or false neg he said. The muscle spasms suck at best, currently taking baclofen 20mg 3x a day for them but not working well

RSD ME · 03-12-2016, 10:05 PM

i've never heard of that syndrome so i can't offer any input on it but hope you are feeling better soon. take care.

Tashi · 04-14-2020, 11:19 AM

Deb, it sounds to me like you have RSD or the crap name of CRPS.
RSD is where the sympathetic nervous system generally from a crush injury gets stuck in over drive. It will go full body, via down the spinal column to affect all limbs. When I have a situation either physical assault or emotional, my body will freeze up. The freezing up is the sympathetic and autonomic nervous systems we don't control doing their thing.

I would find another doctor, preferably an anesthologist as they are the ones that treat RSD/CRPS. Like all doctors, some are good, some are bad. So best to ask around your area to try to find the best one. They generally work in pain clinics.

It might be good to explain how this started if you know. Generally people get RSD from a crush injury to the ganglion nerve and the body does not recover. Or a permanent cast on and when the body swells the cast is too tight ( crushing the nerve). But I do know of people who do not know how theirs really started...

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