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Extreme quadriceps starting pain after 3-4 rest days

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The cramps came back in earnest yesterday...I think I am going to take a different approach and just completely rest/drink lots of beer for a few days to see if that is any more successful. I also rescheduled my muscle biopsy for February, hopefully that will come back with something!
 

CFM

Sep 11, 2016
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Currently coming out of a full blown attack. Started on the 27th December after a couple of days off and to many carbs at Christmas celebrations. Symptoms are no different from any other attack, moving cramps from different muscle groups in both legs, cramping triggered by walking downhill elevations, etc. I have come up with no answers other than the suggestions made in this forum. If anyone has any other suggestions on how to prevent these cramps I'm all ears. I guess most of the posters to this topic are English UK, I'm Australian but of English heritage, wonder if we are all related and have a common ancestor with a defective gene causing this condition?
 
Jan 4, 2017
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Hi all,

I have all the same symptons bought on by the same activity/rest after a decent amount of training. I tend to cycle around 12 hours a week and chuck in a couple of gym sessions if I can. I have had these symptons on and off for about 4 years, but they have always been manageable and I never sought medical help - they only ever lasted a couple of hours. Ironically it often happened when on holiday, but I never put 2 and 2 together! For reference, i ride to a decent ish standard (BC 2/3 cat level and 20min 10m TT).

My most recent attack happened early December 2016 and I ended up on a drip in hospital with a number of checks including most recently an MRI for which I am still awaiting results. This was following multiple pains in the thighs over a 3-4 day period (my last cycle was 3 days earlier). They prevented me from getting to work or traveling at all hence the GP visit and blood test which showed 10,000 CK count.

I saw a neurologist last week and he believes I have metabolic myopathy (which causes rhabdomyolysis). He believe this will have been caused by a ginetic enzyme deficiency. I am now waiting for a biopsy date and EMG, but he believes these may be inconclusive. It's all relatively new to them in terms of how, why and which enzymes. Like most this is the only thread I could find!

Like a few people on here cycling is an important part of my life and I'm gutted not to be able to train and race (it's training and CX season!) but I think this is too important to ignore. I understand it's not curable, but it should be manageable, even if it means less training. Whilst like others I could stave it off by never having a day off the bike, but I am not sure putting the body through continuous rhabdomyolysis is good for it!?!

I'll keep you posted as and when I get any developments - seeing a rheumatologist next week.

P.s. I know lots of us share identical symptons. Apparently what I have is quite rare, so it may be that others have different reasons!
 
Jan 4, 2017
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On a quick note. Have any others on here got any immune system issues as well? I also have hyperthyroidism caused by Graves' disease. It was diagnosed 2 years ago and there can be a link between immune disorders and metabolic myopathy and rhabdomyolysis. Graves is diagnosed by thyroid level test - mine was discovered by accident after a blood test for allegies. I had no other symptoms.
 
Hey Clarky -

Welcome to the club! I don't have any immune issues to my knowledge.

Did they say what the name of the enzyme was? I have read a few other theories with this issue that states the enzyme responsible for storing glycogen in the muscles goes haywire and just continues to signal the body to store more and more glycogen even though the athlete is not using the sugars. Over the course of a couple days with this happening, the muscles cells burst due to over storage of glycogen which then causes the rhabdomyolysis. This has happened to me no matter what my diet has consisted of and I have tried to go completely ketogenic with the same results...
 
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Hi Shane!

TBH they are not sure whether my immune condition is related - I'm just lucky I guess!

I only had the metabolic myopathy diagnosis last week and the neurologist has suggested I revert to NHS for the biopsy and EMG and I am awaiting dates for both. The neurologist was Dr Peter Martin and he is based at addenbrooks (Cambridge). He seemed quite confident of the diagnosis, as whilst it is a rare condition there are not that many specialists so people usually end up in the same place (or on this forum!). The rheumatologist suspected myositis (which would not have been good!) but he thinks that v unlikely as like most on here it's just the legs that are playing up - presumably because that's what we are repeatedly training so hard.

I don't really have a lot else to share at the moment, but it might be worth others floating the metabolic myopathy idea with their docs to see what the say. He was sceptical as to whether they would be able to pinpoint the actual enzyme, and even if they did whether there would be a treatment.
 
Jan 4, 2017
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I hadn't even seen this post when I saw him but I'll definitely mention it. He said that there were other specialist at addenbrooks that he may also rope in, because it is quite a rare condition. I suspect more people may have if It but never suffer as they don't train (or do anything). I therefor suspect it is more common, but only presents itself as an issue where significant activity is undertaken. That may explain why it's popped up on a cycling website - we tend to push our bodies very hard and often.

Let's keep updating on here as and when we learn anything. Like others this is the only reference I've really found to it, but hopefully between us we can find some answers!
 
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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.
 
Re:

Clarky07920 said:
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...
 

jsk

May 25, 2016
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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)
 
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Re:

jsk said:
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.
 
Re: Re:

Shayne_G said:
[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.
 
Re: Re:

budegan said:
Shayne_G said:
[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
 
Re: Re:

Shayne_G said:
budegan said:
Shayne_G said:
[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?
 
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.
 
Re:

budegan said:
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.
 
Re: Re:

Shayne_G said:
budegan said:
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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