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Extreme quadriceps starting pain after 3-4 rest days


10 Jan 2017 23:07

Has anyone brought up CPT II Deficiency with their docs, namely the myopathic form? This seems to be the metabolic disorder that correlates most with what everyone's symptoms are.

https://en.wikipedia.org/wiki/Carnitine_palmitoyltransferase_II_deficiency
https://www.ncbi.nlm.nih.gov/books/NBK1253/
https://www.fodsupport.org/cpt2.htm
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=228302
Shayne_G
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12 Jan 2017 07:25

That sounds like a form of metabolic myopathy to me Shayne so I'd not be surprised if this was the culprit. I'm back I the NHS now so not sure when I'll next see consultant neurologist but I'll mention it. My MRI came back clear yesterday.

I suspect it is this is what I (and possibly some others) may have. I saw the rheumatologist yesterday and whilst not her field of expertise she thinks this is much more likely than myositis - which is a good thing!

The down side is that the key "management" of the condition would appear to be cutting out prolonged/strenuous exercise.
Clarky07920
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Re:

12 Jan 2017 13:08

Clarky07920 wrote:That sounds like a form of metabolic myopathy to me Shayne so I'd not be surprised if this was the culprit. I'm back I the NHS now so not sure when I'll next see consultant neurologist but I'll mention it. My MRI came back clear yesterday.

I suspect it is this is what I (and possibly some others) may have. I saw the rheumatologist yesterday and whilst not her field of expertise she thinks this is much more likely than myositis - which is a good thing!

The down side is that the key "management" of the condition would appear to be cutting out prolonged/strenuous exercise.


It is very rare, but they also say it is not diagnosed as much as it should be. Some people have been able to cope with the symptoms by ingesting more simple sugars pre and post exercise as well as avoiding long-chain fats in their diet, but who knows if this is even what we are all experiencing...
Shayne_G
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12 Jan 2017 16:11

The symptoms definitely sound right, but the cause/triggers don't seem to fit. Reading that first link, it sounds like the problem arises when the body is forced to use fat for fuel (due to duration of exercise, fasted state, or high-fat diet). That seems like exactly the opposite of what seems to happen with me; my problem comes from too much carbs and rest, not too much fat and exercise. I have no problem training in a fasted state, and seem to be pretty good at burning fat during exercise (eg riding for 3 hours with minimal calorie intake). I certainly don't think that going on a high-carb, low-fat diet would be the best way to manage this condition for me.

I still think the underlying mechanism may be more like tying up in horses (http://www.thehorse.com/articles/27500/tying-up-in-horses-a-review)
jsk
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Re:

12 Jan 2017 18:46

jsk wrote:The symptoms definitely sound right, but the cause/triggers don't seem to fit. Reading that first link, it sounds like the problem arises when the body is forced to use fat for fuel (due to duration of exercise, fasted state, or high-fat diet). That seems like exactly the opposite of what seems to happen with me; my problem comes from too much carbs and rest, not too much fat and exercise. I have no problem training in a fasted state, and seem to be pretty good at burning fat during exercise (eg riding for 3 hours with minimal calorie intake). I certainly don't think that going on a high-carb, low-fat diet would be the best way to manage this condition for me.

I still think the underlying mechanism may be more like tying up in horses (http://www.thehorse.com/articles/27500/tying-up-in-horses-a-review)


The tying up in horses also makes sense, and is more like McArdles disease in humans. However, with McArdles disease, people affected experience a second wind phenomenon whereby exercise becomes easier and the cramping sensations go away after ~15 minutes of exercise. I, personally, have never experienced this and if anything the cramping and muscle seizing just gets worse the more I try and work through it.

With CPT II Deficiency, a person has issues with utilizing long-chain fatty acids for fuel. This fuel change occurs after most of the glycogen stores have been depleted. So, what I am currently thinking is: doing a hard block of training uses up a lot of the stored glyocogen in the muscles. If I don't do a good job of replenishing them after I ride (which sometimes I don't if I am working out late at night), I will then start the next workout with the gas needle closer to empty. Extend this out for a few weeks and I force my body to switch its fuel source to long-chain fatty acids. If I have CPT II Deficiency, my mitochondria will be unable to utilize this as a fuel source. This results in the muscles not receiving enough energy, which then leads to rhabdomyolysis, which concludes in muscle seizing and cramping.

However, this hypothesis does not really make sense in regards to this issue being brought upon via rest days and will usually not come about if the athlete is exercising regularly. Although, I have had cramping during a block of training as well, so that symptom sometimes doesn't hold true for me.
Shayne_G
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Re: Re:

13 Jan 2017 14:21

Shayne_G wrote:[quote=" Although, I have had cramping during a block of training as well, so that symptom sometimes doesn't hold true for me.


I find this line interesting (and very scary) as I thought that one of the common factors between us was that the condition was only triggered by a period of inactivity.
budegan
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Re: Re:

13 Jan 2017 14:42

budegan wrote:
Shayne_G wrote:[quote=" Although, I have had cramping during a block of training as well, so that symptom sometimes doesn't hold true for me.


I find this line interesting (and very scary) as I thought that one of the common factors between us was that the condition was only triggered by a period of inactivity.


This recently started happening to me. Whatever this condition is, it does seem to be progressing for me personally as the episodes have become more frequent, lasted longer, and have been more intense. A couple of years ago I could usually work through them via frequent exercise, but recently the cramps have come about during a solid block of riding 6 days a week. This is the reason I started doing further research and am less convinced it is McArdles (tying up) at this point.

This excerpt is from an interesting article I read yesterday evening:
"Metabolic myopathies — Rhabdomyolysis may develop in patients with abnormal muscle, such as individuals with inherited disorders of glycogenolysis, glycolysis, or lipid metabolism (table 2). These disorders are discussed in detail separately. (See "Metabolic myopathies caused by disorders of lipid and purine metabolism" and "Overview of inherited disorders of glucose and glycogen metabolism".)

The metabolic myopathies represent a very small percentage of cases of rhabdomyolysis overall but are relatively common causes among patients with recurrent episodes of rhabdomyolysis after exertion [34,35]. In a series of 77 patients evaluated for "idiopathic" myoglobinuria in whom muscle biopsies were performed, specific enzyme deficiencies were identified in 36 (47 percent) [35]. Carnitine palmitoyltransferase deficiency was the most common disorder, occurring in 17 of the 36 patients, followed by muscle phosphorylase deficiency (McArdle disease) in 10. (See "Metabolic myopathies caused by disorders of lipid and purine metabolism", section on 'Fatty acid transport defects' and "Myophosphorylase deficiency (glycogen storage disease V, McArdle disease)".)

The precise mechanism of muscle necrosis in the metabolic myopathies has not yet been established, but it is likely that insufficient energy production in exercising muscle leads to depletion of adenosine triphosphate (ATP) and creatine phosphate. The maintenance of muscle cell integrity is thereby compromised [36]. (See "Approach to the metabolic myopathies", section on 'Myoglobinuria and rhabdomyolysis' and "Energy metabolism in muscle" and 'Pathophysiology' above.)

Postexertional rhabdomyolysis has also been described in individuals with mitochondrial myopathies due to defects in respiratory chain enzymes [37]."

Full text here: http://www.uptodate.com/contents/causes-of-rhabdomyolysis
Shayne_G
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Re: Re:

13 Jan 2017 16:31

Shayne_G wrote:
budegan wrote:
Shayne_G wrote:[quote=" Although, I have had cramping during a block of training as well, so that symptom sometimes doesn't hold true for me.


I find this line interesting (and very scary) as I thought that one of the common factors between us was that the condition was only triggered by a period of inactivity.


This recently started happening to me. Whatever this condition is, it does seem to be progressing for me personally as the episodes have become more frequent, lasted longer, and have been more intense. A couple of years ago I could usually work through them via frequent exercise, but recently the cramps have come about during a solid block of riding 6 days a week. This is the reason I started doing further research and am less convinced it is McArdles (tying up) at this point.

This excerpt is from an interesting article I read yesterday evening:
"Metabolic myopathies — Rhabdomyolysis may develop in patients with abnormal muscle, such as individuals with inherited disorders of glycogenolysis, glycolysis, or lipid metabolism (table 2). These disorders are discussed in detail separately. (See "Metabolic myopathies caused by disorders of lipid and purine metabolism" and "Overview of inherited disorders of glucose and glycogen metabolism".)

The metabolic myopathies represent a very small percentage of cases of rhabdomyolysis overall but are relatively common causes among patients with recurrent episodes of rhabdomyolysis after exertion [34,35]. In a series of 77 patients evaluated for "idiopathic" myoglobinuria in whom muscle biopsies were performed, specific enzyme deficiencies were identified in 36 (47 percent) [35]. Carnitine palmitoyltransferase deficiency was the most common disorder, occurring in 17 of the 36 patients, followed by muscle phosphorylase deficiency (McArdle disease) in 10. (See "Metabolic myopathies caused by disorders of lipid and purine metabolism", section on 'Fatty acid transport defects' and "Myophosphorylase deficiency (glycogen storage disease V, McArdle disease)".)

The precise mechanism of muscle necrosis in the metabolic myopathies has not yet been established, but it is likely that insufficient energy production in exercising muscle leads to depletion of adenosine triphosphate (ATP) and creatine phosphate. The maintenance of muscle cell integrity is thereby compromised [36]. (See "Approach to the metabolic myopathies", section on 'Myoglobinuria and rhabdomyolysis' and "Energy metabolism in muscle" and 'Pathophysiology' above.)

Postexertional rhabdomyolysis has also been described in individuals with mitochondrial myopathies due to defects in respiratory chain enzymes [37]."

Full text here: http://www.uptodate.com/contents/causes-of-rhabdomyolysis


Sounds like we could all do with a biopsy. How long off the bike etc would the procedure mean?
budegan
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13 Jan 2017 16:35

My biopsy is scheduled for 1/26. It is an open procedure, as opposed to a needle biopsy, so they will be making an incision in my quad and cutting out 4 separate samples. They say this is best for a possible metabolic disorder since they can perform many tests and different stains on the tissues. I will be non-weight bearing for 3 days on crutches, then nothing for 6 weeks after.
Shayne_G
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13 Jan 2017 16:39

I'm really surprised it's that long as I'd have thought it's just a case of the wound healing.
budegan
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Re:

13 Jan 2017 16:57

budegan wrote:I'm really surprised it's that long as I'd have thought it's just a case of the wound healing.


The wound isn't the issue, it's the amount of quad muscle they have to take (~a cubic centimeter). Taking that much tissue increases the risk of quad rupture which is why the protocol is so conservative.
Shayne_G
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13 Jan 2017 16:59

Oh God. Ouch!
budegan
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13 Jan 2017 17:01

It will be well worth it if I can get to the bottom of this!
Shayne_G
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Re: Re:

13 Jan 2017 17:10

Shayne_G wrote:
budegan wrote:I'm really surprised it's that long as I'd have thought it's just a case of the wound healing.


The wound isn't the issue, it's the amount of quad muscle they have to take (~a cubic centimeter). Taking that much tissue increases the risk of quad rupture which is why the protocol is so conservative.

Wow! I hope they can make a precise determination...

Good luck!
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Re: Re:

13 Jan 2017 17:18

Shayne_G wrote:The tying up in horses also makes sense, and is more like McArdles disease in humans. However, with McArdles disease, people affected experience a second wind phenomenon whereby exercise becomes easier and the cramping sensations go away after ~15 minutes of exercise. I, personally, have never experienced this and if anything the cramping and muscle seizing just gets worse the more I try and work through it.

McCardle's disease sounds like muscles are unable to use glycogen, such that exercise at intensity (beyond what can be fueled by fat-burning) causes cramping, weakness, and fatigue. That definitely doesn't fit the pattern of what most in this thread are experiencing.

The polysaccharide storage myopathy mentioned in the article I linked above that causes tying up does seem to fit, though. It's characterized by abnormally high glycogen concentrations in skeletal muscles, and episodes can be triggered by excess carbs and/or a break in exercise routine. This fits the pattern I see with myself pretty much to a 'T'.

With CPT II Deficiency, a person has issues with utilizing long-chain fatty acids for fuel. This fuel change occurs after most of the glycogen stores have been depleted. So, what I am currently thinking is: doing a hard block of training uses up a lot of the stored glyocogen in the muscles. If I don't do a good job of replenishing them after I ride (which sometimes I don't if I am working out late at night), I will then start the next workout with the gas needle closer to empty. Extend this out for a few weeks and I force my body to switch its fuel source to long-chain fatty acids. If I have CPT II Deficiency, my mitochondria will be unable to utilize this as a fuel source. This results in the muscles not receiving enough energy, which then leads to rhabdomyolysis, which concludes in muscle seizing and cramping.

However, this hypothesis does not really make sense in regards to this issue being brought upon via rest days and will usually not come about if the athlete is exercising regularly. Although, I have had cramping during a block of training as well, so that symptom sometimes doesn't hold true for me.

I'm pretty confident it's not CPT II Defeciency in my case, because my episodes don't occur when glycogen stores would be depleted, just the opposite in fact. But it's entirely possible that not everyone on this thread has the same condition; even though the syptoms are similar, the underlying mechanism could be different.
jsk
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Re: Re:

13 Jan 2017 17:24

Shayne_G wrote:This recently started happening to me. Whatever this condition is, it does seem to be progressing for me personally as the episodes have become more frequent, lasted longer, and have been more intense. A couple of years ago I could usually work through them via frequent exercise, but recently the cramps have come about during a solid block of riding 6 days a week. This is the reason I started doing further research and am less convinced it is McArdles (tying up) at this point.

Sorry to hear things are getting worse for you, good luck with the biopsy, I hope they can find an answer for you.

For me the condition seems manageable as long as I'm careful with diet and training routine. I have had some "almost" episodes occur after only a day or two of light training or rest, when I didn't keep the diet in check. But I haven't had a full-blown episode since last spring despite training more than the previous year.
jsk
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13 Jan 2017 17:31

Yes best of luck Shayne.

In my case I seem to be with JSK in that in terms of glycogen it's going to be excess rather than depletion that causes an episode. What's certain though is that more than a day off and its on :(
budegan
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13 Jan 2017 18:11

Thanks everyone, I hope to get results back within 2 weeks post-biopsy and will be sure to fill everyone in accordingly.

My feelings are the cramps are being caused by the increased creatine kinase and not due to being over-saturated with glycogen. I don't think your body can over-store that much glycogen in only 24-48 hours, and we aren't horses. Doing continual exercise probably acts as a muscular pump and allows the creatine kinase to not build up in the system. However, a span of 24-48 hours of not exercising allows the CK levels to build to the point of muscular cramping/seizing and then the cascade of other symptoms appears. Also, no one, at least to my knowledge, has experienced the token "second wind phenomenon" of McArdles disease in this forum, right?
Shayne_G
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13 Jan 2017 18:16

No way to second wind. There is no option other than to stop peddling once the cramping begins - too painful otherwise.
budegan
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