Extreme quadriceps starting pain after 3-4 rest days

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jsk

May 25, 2016
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Shayne_G said:
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.
 
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jsk

May 25, 2016
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Shayne_G said:
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.
 
Feb 17, 2016
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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 :(
 
Mar 5, 2016
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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?
 
Mar 5, 2016
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budegan said:
No way to second wind. There is no option other than to stop peddling once the cramping begins - too painful otherwise.
This is the reason I don't think it is McArdles disease...I can't pedal through it either and never have experienced that second wind phenomenon everyone who has it speaks of.

Glycogen replacement usually takes >48 hours if the athlete is training heavily (which we all are (were)), so experiencing cramping >1 day doesn't jive with that either.

Furthermore, I have experimented for 3 months on a ketogenic diet (<20g of CHO/day) with no improvements either.
 

jsk

May 25, 2016
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Shayne_G said:
budegan said:
No way to second wind. There is no option other than to stop peddling once the cramping begins - too painful otherwise.
This is the reason I don't think it is McArdles disease...I can't pedal through it either and never have experienced that second wind phenomenon everyone who has it speaks of.
I agree it's not McArdles, but the polysaccharide storage myopathy that causes tying up in horses is different; it results in too much glycogen storage, as opposed an inability to use glycogen with McCardles.

Glycogen replacement usually takes >48 hours if the athlete is training heavily (which we all are (were)), so experiencing cramping >1 day doesn't jive with that either.
Glycogen replenishment can take up to 48 hours, but it can be as little as 24 hours if carb intake is high enough. To me that fits perfectly with the time frame many of us are seeing: a few days of rest, or slightly less rest with extremely high sugar/carb intake are the triggers for me.

Furthermore, I have experimented for 3 months on a ketogenic diet (<20g of CHO/day) with no improvements either.
If you really do have CPT II Deficiency, that's probably the worst diet you could choose. The article in your first link recommends a high-carb low-fat diet to manage CPT II Deficiency, so maybe that's why it has been getting worse for you.
 
Jan 17, 2017
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It seems I'm another potential casualty of this phenomenon and after googling my symptoms stumbled across this topic, which has been going on for years!

Having read through my symptoms and those of others on the first first couple of pages and most recent (I didn't read all 11 pages). It reminded me of a condition common in motorbike racers called "Arm pump" (but in the legs), so just thought I'd introduce my theory.

Turns out the real name of the condition is Chronic exertional compartment syndrome, I'd recommend the Wiki article, but a few selected quotes...

When compartment syndrome is caused by repetitive use of the muscles, as in a cyclist, it is known as chronic compartment syndrome (CCS)

The cause of compartment syndrome is due to excess pressure on or within the muscle compartments. This pressure can occur for many different reasons, many are due to injuries. Injuries cause the swelling of tissue. The swelling of the tissue forces pressure upon the muscle compartments, which has a limited volume.

Muscle size may increase by up to 20% during exercise. When this happens, pressure builds up in the tissues and muscles causing tissue ischemia (lack of Oxygen to the muscle).

Symptoms involve numbness or a tingling sensation in the area most affected. Other signs and symptoms include pain described as aching, tightening, cramping, sharp, or stabbing. This pain can occur for months, and in some cases over a period of years, and may be relieved by rest.
https://en.wikipedia.org/wiki/Compartment_syndrome#Chronic_exertional_compartment_syndrome

If you consider that heavy training would cause many tears and damage to your leg muscles and prolonged periods of blood flow to the legs increasing muscle size, it's certainly a possibility that the spasms are driven by the pressure that has built up within the muscle. This is then temporarily relieved when cycling again therefore you're actually covering up an underlying issue which probably needs a prolonged time off the bike to heal?

I'm pretty sure the long term answer is more time off the bike rather than jumping back on it...
 
Mar 29, 2016
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My last bout with this was 11 months ago. Today at the end of a fairly grueling 3 hour XC ski, at roughly tempo pace (meaning, quite hard for 3 hours), while walking a short distance downhill from the trail to my car, bam! both quads.

I was hydrated (carried a camelbak and drank it all) and not coming off a rest period. I was definitely exhausted from the ski, but no more so than after a typical 4 hour hard bike ride.

The only common denominator with my previous two episodes was walking downhill. Or, possibly, a subclinical illness of some kind; other family members have been sick recently.

At home I took 2 Aleve (2 Aleve is equivalent to prescription strength Naproxen), which blunted the pain. I am desperately hoping that this doesn't turn into a full blown, multi day episode.
 
Mar 5, 2016
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globecanvas said:
My last bout with this was 11 months ago. Today at the end of a fairly grueling 3 hour XC ski, at roughly tempo pace (meaning, quite hard for 3 hours), while walking a short distance downhill from the trail to my car, bam! both quads.

I was hydrated (carried a camelbak and drank it all) and not coming off a rest period. I was definitely exhausted from the ski, but no more so than after a typical 4 hour hard bike ride.

The only common denominator with my previous two episodes was walking downhill. Or, possibly, a subclinical illness of some kind; other family members have been sick recently.

At home I took 2 Aleve (2 Aleve is equivalent to prescription strength Naproxen), which blunted the pain. I am desperately hoping that this doesn't turn into a full blown, multi day episode.
Say it ain't so! That would totally suck for you if it rears its ugly head again and turns into a full blown attack. My fingers are crossed it won't.

I underwent the muscle biopsy yesterday and my quad is SORE as hell today. I am meeting with my neurologist on 2/16 and hope to get results from it and figure out what is happening with us!
 
Mar 29, 2016
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Well I dodged a bullet. After the episode set in I double dosed on naproxen for 2 days, and for another 2 days dosed up before any exercise. In between doses my quads were very sore and tender, just as with previous episodes. During that time, whenever I had to walk downhill I would try not to bend my knees at all which looked totally stupid and made me very slow but I was desperate not to do anything that might set the pain off again.

By doing this I managed to exercise more or less normally during the episode and now, 6 days after the episode started, I'm pretty much back to normal. I'm not a doctor and hate to recommend double dosing on NSAIDs to ward off an episode, but it did work.
 
Mar 5, 2016
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globecanvas said:
Well I dodged a bullet. After the episode set in I double dosed on naproxen for 2 days, and for another 2 days dosed up before any exercise. In between doses my quads were very sore and tender, just as with previous episodes. During that time, whenever I had to walk downhill I would try not to bend my knees at all which looked totally stupid and made me very slow but I was desperate not to do anything that might set the pain off again.

By doing this I managed to exercise more or less normally during the episode and now, 6 days after the episode started, I'm pretty much back to normal. I'm not a doctor and hate to recommend double dosing on NSAIDs to ward off an episode, but it did work.
That is great news! I am happy you were able to avoid a full blown flare-up :)

One of the things they are checking for with my muscle biopsy sample is evidence of myositis. This would jibe with the symptoms getting better after you double dosed on Naproxen (NSAID) as it would decrease the inflammation of the muscle and allow you to resume your normal activities.

I get the stitches out of my leg tomorrow and then meet with the neurologist on Thursday, hopefully I can get some results from the test and all this additional pain is for naught.
 
Mar 5, 2016
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Hey everyone -

Here are the preliminary results from my open muscle biopsy, please pass this along to anyone who would know anything and give me your opinions too. They are going to do further testing for metabolic specific issues and I will be sure to pass those along too.

------

Study Result
Narrative
CASE: BS-17-W05893
PATIENT: SHAYNE GAFFNEY

Brigham and Women's Hospital
Department of Pathology
75 Francis Street, Boston, MA 02115

CLIA License No.: 22D0705149
Laboratory Director: Dr. Christopher D.M. Fletcher

Physician: GISELA HELD, M.D.



Resident: Isaac Solomon, M.D., Ph.D.; David Meredith, M.D., Ph.D.
Pathologist: Umberto De Girolami, M.D.

PATHOLOGIC DIAGNOSIS:

CONSULT SLIDES FROM LAHEY HOSPITAL AND MEDICAL CENTER, BURLINGTON, MA.

A. SPECIMEN DESIGNATED: "LEFT QUADRICEPS MUSCLE" (SL17-02615A; 1/31/2017):

Skeletal muscle with mild myopathic changes; see Note and Microscopic
Description.

Epon embedded semi-thin sections and electron microscopy will be performed and
reported in an addendum.

NOTE:
This case was reviewed at the Neuromuscular Conference with Dr. Amato on
2/6/17.

MICROSCOPIC DESCRIPTION:
Examination of frozen and paraffin-embedded H&E-stained sections shows mild
excess variability in fiber size and occasional atrophic, angulated fibers.
Occasional fibers contain vacuoles and subsarcolemmal aggregates of granular
material. Basophilic, degenerating, or necrotic fibers are not present.
Myophagocytosis is not present. Internalized nuclei are increased in number in
scattered fibers. Inflammatory infiltrates are not seen. Endomysial connective
tissue is not increased. Trichrome stain reveals normal connective tissue and
myofibrillar structure. PAS stain reveals increased amounts of glycogen in
occasional fibers. Oil red O stain reveals a normal content of lipid. NADH
histochemical stain reveals the usual finely stippled staining pattern with a
normal myofibrillar network. ATPase histochemical stains (pH 4.3, 9.4) show
good distinction of fiber types and a normal distribution of fiber type
(checkerboard pattern) with mild type 1 predominance.


CLINICAL DATA:
History: 30M athlete with 3 years of intermittent cramps in the thighs. In
March 2016, he had a febrile illness with body aches and CK in the 6000s, which
subsequently decreased to 472. Exam without weakness and reflexes present. EMG
with low-amplitude, short-duration MUPs and early recruitment pattern in the
adductor longus. Muscle biopsy of the thigh to evaluate for metabolic myopathy.

Clinical Diagnosis: ?metabolic myopathy

TISSUE SUBMITTED:
A/1. Left quadriceps muscle

GROSS DESCRIPTION:
Part A.
The specimen is received in one (1) container, labeled with the patient's name
and medical record number.

The specimen is received fresh, labeled "MBX" and consists of one (1) fragments
of tan/red soft tissue (2.0 X 1.0 X 1.0 cm/ in aggregate). The tissue is
entirely submitted for frozen, EM, and paraffin.

Micro A1: 1


By his/her signature below, the senior physician certifies that he/she
personally conducted a microscopic examination ("gross only" exam if so stated)
of the described specimen(s) and rendered or confirmed the diagnosis(es)
related thereto.


Final Diagnosis by Umberto De Girolami M.D., Electronically signed on Monday
February 06, 2017 at 03:21:56PM
 
Jan 4, 2017
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Hi Shayne

So did they conclude it was a case of metabolic myopathy, and if they did was there any suggestion about how to manage it effectively? My consultant was pretty confident my issue was metabolic myopathy (I've got EMG tomorrow and biopsy in march) and he just said I had to cycle less, particularly if I have a cold/virus. I haven't had any issues since mid December, but then again I haven't done too much riding either. Bit gutted as was supposed to be going on training camp tomorrow.

What's the next step for you?
 
Mar 5, 2016
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Clarky07920 said:
Hi Shayne

So did they conclude it was a case of metabolic myopathy, and if they did was there any suggestion about how to manage it effectively? My consultant was pretty confident my issue was metabolic myopathy (I've got EMG tomorrow and biopsy in march) and he just said I had to cycle less, particularly if I have a cold/virus. I haven't had any issues since mid December, but then again I haven't done too much riding either. Bit gutted as was supposed to be going on training camp tomorrow.

What's the next step for you?
Nothing was concluded, but all signs are pointing to a metabolic myopathy at this point. They are going to do further testing on the sample as well as look at it under an electron microscope to try and figure out which metabolic myopathy it is.

If this in inconclusive, the next step is genetic testing.
 
Jan 4, 2017
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Will be interesting to know whether there is actually something they can do about it once they do get to the bottom of what it is!! As part of my extensive blood testing I was also just (last week) diagnosed with alpha one antitrypsin so the metabolic myopathy has taken a bit of a back seat!! Guess I'm just lucky!
 
Mar 5, 2016
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Hey everyone -

I met with the neurologist today. They did confirm it was a metabolic myopathy, and a glycogen storage disorder, BUT they could not give me a definitive diagnosis. The working diagnosis is McArdles disease, but they are still waiting on 2 more tests to return from the biopsy to tell me definitively. I should know more by early March...
 
Feb 17, 2016
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Shayne_G said:
Hey everyone -

I met with the neurologist today. They did confirm it was a metabolic myopathy, and a glycogen storage disorder, BUT they could not give me a definitive diagnosis. The working diagnosis is McArdles disease, but they are still waiting on 2 more tests to return from the biopsy to tell me definitively. I should know more by early March...
I've not checked in on this thread for a few weeks so amazing to see the leaps forward it's taken.

Shayne you legend, taking one for the team. When will you be back on the bike again after that?

What's really confusing me here is that if it is McArdle's that we have then how come we've been riding and racing intensively despite the fact that the recommended management appears to include the importance of avoiding strenuous exercise? ..... Obviously that is extremely bad news for us if we're going to have to adhere to that one :(
 
Mar 5, 2016
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budegan said:
Shayne_G said:
Hey everyone -

I met with the neurologist today. They did confirm it was a metabolic myopathy, and a glycogen storage disorder, BUT they could not give me a definitive diagnosis. The working diagnosis is McArdles disease, but they are still waiting on 2 more tests to return from the biopsy to tell me definitively. I should know more by early March...
I've not checked in on this thread for a few weeks so amazing to see the leaps forward it's taken.

Shayne you legend, taking one for the team. When will you be back on the bike again after that?

What's really confusing me here is that if it is McArdle's that we have then how come we've been riding and racing intensively despite the fact that the recommended management appears to include the importance of avoiding strenuous exercise? ..... Obviously that is extremely bad news for us if we're going to have to adhere to that one :(
Hi Budegan -

I have actually been back on the bike for ~1 week. I haven't been doing anything strenuous obviously, but just some 30-60 minute z1/2 spins to keep the muscle memory going. Technically I have another 4 weeks before I can do anything strenuous to allow for full muscular healing.

McArdles was just the working diagnosis, it still could be other things which is why we won't know definitively until the other tests come back. If those come back as inconclusive, then I will undergo gene testing to figure out which GSD it is.

From my understanding, the exercise itself doesn't matter too much, BUT the fuel sources available to the working muscles does. Muscles will burn blood glucose first, then free fatty acids, and finally glycogen. The issue with McArdles is the ability to convert glycogen back into glucose to use as a fuel source. People with the disease are lacking the enzyme responsible for doing so, which results in the working muscles not receiving the necessary energy to keep up with demand, which then results in rhabdo, cramping, blah, blah, blah. So, the key is to keep your blood glucose and free fatty acid levels topped up during the workout so your body does not have to rely on its glycogen stores (which it can't use)...I am not sure what the best approach for doing this would be though, so they referred me to a clinical dietitian who I am meeting with on Tuesday. I will be sure to update this forum again as to what they say.
 
Jan 4, 2017
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I was diagnosed with metabolic myopathy and mcardles does eeem to fit with my symptoms. I have reluctantly ruled out training and racing although I have been doing one ride a week. The number of 1 in 280,000 in the U.K. Seems low, but I reckon they could be right that many remain undiagnosed as I think mine only presented because of the amount of cycling I was doing (16 hours a week + gym). Not sure whether it's worth me actuallly going through with the biopsy as it sounds like they won't find a cure anyway. This is worth a quick look http://patient.info/doctor/mcardles-disease-glycogen-storage-disease-type-v
 
Jan 4, 2017
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The one bit I'm not sure about in relation to mcardles' is the second wind bit. I don't think this has ever happened with me and I have never struggled to perform any exercise because of the condition. The pain has only ever happened outside of exercise, but when walking down hill or down stairs and usually some days after I have stopped exercising. I certainly never had a heart rate drop of 35 beats a few minutes after starting a ride... strange really.
 
Mar 5, 2016
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Hey Clarky -

Call me stubborn (or stupid), but I love cycling and competition so passionately, I can't see living my life without it. I am optimistic once we nail down a diagnosis we can find a management technique for it. I am seeing the nutritionist today to discuss what the best dietary management of it would be (I will fill everyone in later today).

Only 1/2 of the people who have McArdles experience the "second wind", I have also never experienced one. I think as long as your body doesn't try and draw from its glycogen stores (which it can't) this should prevent muscle damage. So, if you are riding long and steady, you should be fine with normal fueling techniques, but my hypothesis is during intense rides / races, we need to fuel more frequently and with more sugars so the body always has a constant glucose fuel source to draw from.

Remember the body burns glucose -> free fatty acids -> glycogen. Once we run out of glucose and FFA, we are f*%$@# for lack of a better term.

This is a great video describing the what and how:
https://www.youtube.com/watch?v=1YfZLqaAdW8
 

jsk

May 25, 2016
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Glad to hear they're narrowing in on a diagnosis. The metabolic myopathy part and excess glycogen part make sense to me. But McArdle's doesn't fit my case (or I suspect most others in this thread) at all. For one thing, the symptoms kicking in after rest days doesn't fit; with McArdle's the cramping is triggered immediately by strenuous exercise from what I've read. Also there's just no way I could do the training I do without using glycogen.
 
Reactions: steviep
Mar 5, 2016
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jsk said:
Glad to hear they're narrowing in on a diagnosis. The metabolic myopathy part and excess glycogen part make sense to me. But McArdle's doesn't fit my case (or I suspect most others in this thread) at all. For one thing, the symptoms kicking in after rest days doesn't fit; with McArdle's the cramping is triggered immediately by strenuous exercise from what I've read. Also there's just no way I could do the training I do without using glycogen.
My symptoms also occur after rest days, that was the reason they performed the biopsy after a block of training.

The muscles cramp and go into contractures due to its energy demands not being met. This can happen at any time of the exercise, but strenuous exercise does seem to make it worse due to the body using its stored energy faster than normal. This is why I believe it is crucial to maintain a consistent supply of gels, or other simple carbs during longer or more strenuous exercise.

You can do the training you are now relying on glucose, free fatty acids, and liver gycogen stores, but muscle glycogen is inaccessible if McArdles is what is happening. With McArdles, you lack an enzyme responsible for converting muscle glycogen back into glucose for use. I am a perfect example of being able to train and race for years while dealing with this condition, so I would have to disagree with you in saying my symptoms don't fit with most in this thread.
 

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