Tag Archives: mcardle’s disease

Can patients with McArdle’s disease run?  Historically, most of us with the condition have difficulty doing just that – jogging or running, or similarly intense activities.  While scouring the internet for information on the disease, I came across an article in the online British Journal of Sports Medicine titled “Can Patients with McArdle’s Disease Run?” whose abstract follows:

Patients with McArdle’s disease commonly adopt a sedentary lifestyle. This sedentary behaviour, however, usually worsens the limited exercise capacity of these patients. Although eccentric muscle work can be associated with rhabdomyolysis, supervised eccentric training with gradually increasing loads has important advantages compared with conventional concentric work, particularly for patients with a poor cardiorespiratory system. We report the beneficial effects (particularly, increased VO2peak (from 14.6 to 30.8 ml /kg/min) and increased gross muscle efficiency (from 13.8% to 17.2%)) induced by a supervised aerobic training programme of 7 months duration including 3–4 running sessions ((60 min/session) per week in a 38-year-old patient. These preliminary data suggest the potential therapeutic value of this type of exercise in these patients. 

This is encouraging, because it is confirms what I already suspected: that diligent and careful but nonetheless moderately intense exercise may be the only effective therapy for McArdle’s disease capable of improving quality of life.

To read more, click  here: http://bjsm.bmj.com/cgi/reprint/41/1/53.pdf (free registration is required.)

Warmup Exercises Can Dramatically Reduce the Chances of Injury from McArdle’s Disease
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DISCLAIMER: This is not professional medical advice, but simply anecdotal information shared by an individual with McArdle’s disease.  Seek guidance from your informed physician before beginning an exercise regimen if you have McArdle’s disease.

If you have McArdle’s disease, whether you were diagnosed recently or years ago chances are you have known for a long time that something was quite wrong with your muscles.  Perhaps as a result you’ve come to avoid exercise altogether or find yourself in a more sedentary lifestyle than you would like.  If so, you’re like me.

Ironic as it may seem, exercise itself may be in fact the most effective treatment I’ve encountered for coping with McArdle’s disease.  The physiological responses of the body to exercise, which include:

  • Release of growth hormone by the pituitary gland to stimulate growth of bone, muscle and connective tissue
  • Improved circulation
  • Improved natural regulation of blood glucose levels
…seem to make “blasting” a lot less likely (“blasting” being the painful cramping that can also cause elevated blood protein levels, as well as a high fever and a day in bed in agony.)  It stands to reason that the body’s response to exercise works to “stave off” or partially mitigate the circumstances from which injury-causing failure episodes arise.
Consider the following.  Improved muscular and connective tissue strength equip the body with a higher “taxing” threshold for brief anaerobic motions such as squatting, bending over, lifting things from the car or to a shelf, or even carrying laundry.  Improved circulation equips muscle cells individually with more ready access to blood-borne substrates such as fatty acids and blood sugar.  Blood sugar levels, of course, through exercise and prudent dietary choices are less likely to experience devastating peaks and valleys.  (People with McArdle’s disease are probably very attuned to their blood sugar levels, as only brief moderate exercise allows them to experience exactly how much or how little energy their muscles have access to at the cellular level.)
Speaking for myself, I know that if I get up from my desk and go sprint around the yard with my dog, I’m likely to feel it and have to stop lest I incur a muscle injury.  However, there are days when I have extended endurance and feel markedly stronger which are preceded by periods of diligent, careful exercise involving extended warm-up periods. ?
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Why Warmup is So Important for People with McArdle’s Disease
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Once I’m warmed up, I’m able to jog longer or run up and down the basketball court a little easier, or climb more stairs, or move from one airport terminal to another and keep up with my companions.  I can do this without the fear that failure – which, if the limits are pushed, is ALWAYS inevitable – will result in a painful “blasting” episode.  As such, this exercise I’m able to experience without anxiety about falling down or cramping is likely as good for my body as it is for any normal person.  Walking, jogging, hiking, biking – all in moderation, using common sense, with careful warmup – I can pull them off.

Relevant links:

Warmup Exercises Can Dramatically Reduce Your Chances of Injury from McArdle’s Disease
 

DISCLAIMER: This is not professional medical advice, but simply anecdotal information shared by an individual with McArdle’s disease.  Seek guidance from your informed physician before beginning an exercise regiment if you have McArdle’s disease.

If you have McArdle’s disease, whether you were diagnosed recently or years ago chances are you have known for a long time that something was quite wrong with your muscles.  Perhaps as a result you’ve come to avoid exercise altogether or find yourself in a more sedentary lifestyle than you would like.

Ironic as it may seem, exercise itself may be in fact the most effective treatment I’ve encountered for coping with McArdle’s disease.  The physiological responses of the body to exercise, which include:

  • Release of growth hormone by the pituitary gland to stimulate growth of bone, muscle and connective tissue
  • Improved circulation
  • Improved natural regulation of blood glucose levels
…seem to make “blasting” a lot less likely (“blasting” being the painful cramping that can also cause elevated blood protein levels, as well as a high fever and a day in bed in agony.)  It stands to reason that the body’s response to exercise works to “stave off” or partially mitigate the circumstances from which injury-causing failure episodes arise.
Consider the following.  Improved muscular and connective tissue strength equip the body with a higher “taxing” threshold for brief anaerobic motions such as squatting, bending over, lifting things from the car or to a shelf, or even carrying laundry.  Improved circulation equips muscle cells individually with more ready access to blood-borne substrates such as fatty acids and blood sugar.  Blood sugar levels, of course, through exercise and prudent dietary choices are less likely to experience devastating peaks and valleys.  (People with McArdle’s disease are probably very attuned to their blood sugar levels, as only brief moderate exercise allows them to experience exactly how much or how little energy their muscles have access to at the cellular level.)
Speaking for myself, I know that if I get up from my desk and go sprint around the yard with my dog, I’m likely to feel it and have to stop lest I incur a muscle injury.  However, there are days when I have extended endurance and feel markedly stronger which are preceded by periods of diligent, careful exercise involving extended warm-up periods.  
 
Why Warmup is So Important for People with McArdle’s Disease
 
Once I’m warmed up, I’m able to jog longer or run up and down the basketball court a little easier, or climb more stairs, or move from one airport terminal to another and keep up with my companions.  I can do this without the fear that failure – which, if the limits are pushed, is ALWAYS inevitable – will result in a painful “blasting” episode.  As such, this exercise I’m able to experience without anxiety about falling down or cramping is likely as good for my body as it is for any normal person.  Walking, jogging, hiking, biking – all in moderation, using common sense, with careful warmup – I can pull them off.

Sources:

A quick Google search of “adult-onset McArdle’s disease” will yield volumes of medical abstracts on patient studies. I’ve seen plenty of other abstracts that point out that the disease is not often diagnosed until at least the second or third decade of life. Perhaps this is because this is around the time the body’s metabolism starts to slow down a little, and the “weekend warrior” injuries become more common (and considerably more complicated, without glycogen in the picture.)

There may in fact be an adult-onset form of McArdle’s disease. I also suspect that many newly-diagnosed adults have lived with the disease their entire lives and simply gone without diagnosis, “toughing it out”. (In another article, I talk about how children with McArdle’s disease in particular are particularly vulnerable.)

A concerted campaign to educate grade school gym teachers, pediatricians and health care professionals about McArdle’s disease could spare many people the punishment of trying to force their bodies to do things they simply weren’t equipped to do. This may enable them to participate in alternate activities tailored to their unique condition, and improve their health later in life as a result through earlier proactive management of the disease.

Ultimately the question of whether or not there is an adult-onset form of McArdle’s is probably not as important as is education and information. The more people know about McArdle’s disease, the less likely it is that children and adults who remain undiagnosed will suffer and live with unanswered questions.  Your feedback on this topic is welcome.

Muscle fatigue and weakness experienced during even moderately intense physical activity can in fact simply be caused by a lack of physical conditioning, but the human body is a robust machine that, when working properly, responds rapidly and efficiently to changing demands.  When muscle weakness is acute and to the point of failure (non-response), however, it is time to seek medical attention.

People with McArdle’s Disease may experience this type of muscle failure.  It is described in medical journals as “rapid onset muscle weakness and cramping,” but this doesn’t give a very clear description.  More accurately, it can be described as a diminished response from the active muscle group as a function of time.  For example, when someone with McArdle’s Disease tries jogging, their experience is more or less normal for anywhere between 10-30 seconds, depending on factors like incline, recent diet, physical condition, etc.  It is after this initial period that the individual with McArdle’s experiences an abrupt and rapid decrease in energy that is not so much about being “out of breath” as it is about muscles simply no longer responding.

I’ve put together a graphic representation of what this feels like.  Anyone with McArdle’s Disease knows that intense exercise elicits an exponential decrease in energy in a matter of seconds, usually well under one minute:

This is a rough, non-scientific graph that is rather subjective but nonetheless probably an accurate graphical description of the sensation of McArdle’s Disease symptoms.  The exponential curve representing energy capacity as a function of time during intense exercise corresponds to what I know about reaction rates; i.e., there is a fixed concentration of phosphocreatine as well as creatine kinase in the cell atany given moment, so as ATP generated from glucose metabolism is the limiting factor in the overall picture, as the concentration of phosphocreatine (which is used up creating ATP for immediate use) drops dramatically, so too does the “reaction rate” of physical energy available from the active muscle group.

Muscle fatigue and weakness experienced as a result of McArdle’s Disease seems to vary according to the intensity of the activity.  Walking on flat ground, for example, apparently has an energy demand per unit time that is low enough to allow the cell to overcome the obstacle in the traditional energy pathway and create enough energy per unit time to permit the continued activity.  Some physicians speculate that individuals with McArdle’s Disease can experience a “2nd wind” phenomenon following warm-up as a result of adaptive measures the body takes in response to physical activity.  In any event, between walking and jogging there seems to be a rather pronounced drop-off in energy per unit time.  Speaking for myself, I can tell you that no amount of conditioning to date has allowed me to completely overcome the dramatic drop in muscle energy which results from taxing activities such as jogging or climbing stairs.  Walking, however, is a different story.  The graph below compares the sensation of performing these activities with McArdle’s Disease:

As the graphic indicates, walking may elicit some pain and weakness initially but with calculated persistence, this is overcome and walking is easily sustainable for long periods of time.  I am even able to ascend moderately large hills, following such a warm up and using efficient “management” of the terrain and my energy.

The purpose of this page is to give physicians or other health professionals as clear a picture as is possible of what the symptoms of this disease are like.  The more is known about the disease, the better the quality of life for those with it.

Children with McArdle’s Disease are at significant disadvantage.  Children aren’t able to articulate themselves as well as adults and their symptoms are easily confused with being lazy or stubborn or simply uncooperative.  Children who are lagging behind because they are experiencing painful muscle failure from McArdle’s Disease may find their discomfort compounded by scolding or teasing from classmates or teachers. At some point, all children endure some form of teasing from friends or siblings or classmates.  However, those children more vulnerable to teasing for whatever reason – small stature, weight issues, appearance, or anything else – may be singled out, and excessive attention of this kind is unhealthy.

It is incumbent upon grade school physical education teachers, nurses, pediatricians and anyone else in a position of relevant authority to educate themselves on McArdle’s Disease and other conditions whose symptoms are easily mistaken for behavior issues or lack of cooperation.  Even the most observant teacher cannot tell simply by looking at a child whether or not their muscles work properly, and the way the symptoms of McArdle’s Disease manifest is deceptively similar to a simple lack of physical condition or laziness.

How to Know if a Child Has McArdle’s Disease

Here are some things you may observe:

  • Does the child complain of weariness on even moderately long walks?
  • Do smaller children complain of weariness and ask to be carried?
  • Do hills, stair cases, and other inclines elicit the responses above?
  • Does the child complain of “pain” in the legs in such incidents?
  • Does the child have difficulty performing even an average number of sit-ups or push-ups, even in a modified form?
  • Does the child have difficulty or otherwise avoid running laps in gym class?
  • Does the child demonstrate, in general, a lack of physical fitness that contradicts an otherwise healthy appearance, assuming they are not overweight?
  • Has the child ever complained of or demonstrated unusual muscle stiffness and cramping?
Any of these observations are worth investigating.  Again – children have only responsible adults as their advocates, and cannot reasonably be expected to know that something is wrong with them that they cannot help.  
The symptoms of McArdle’s Disease are subtle but specific.  Your attention and action can mean the difference between years of physical and emotional discomfort, and a more normal childhood.  If you are a physical education teacher who would like to know more about the disease, please contact us for information.

As of 2008, the only realistic treatment for McArdle’s Disease is – somewhat ironically – exercise.

The physical (and emotional) discomfort associated with failure episodes characteristic of McArdle’s Disease often pushes people with the disease towards a sedentary life style.  If you consume sugary snacks or beverages as a way to try to up your blood sugar to power through episodes, you probably have it worse because the body ultimately outsmarts itself and interprets those snacks as “break time” and shuts your energy-creating enzymes down essentially, making you even more tired (this is not pseudo-science, but it IS an idiosyncratic characterization…there’s a difference.)

The reason sedentary people with McArdle’s Disease have so much discomfort exercising is the same reason any normal sedentary person does.  Their body has adjusted to just sitting around, and not having demands placed on it.  When you get up and push your body beyond the limits of what it is chemically prepared and equipped to do, you will feel initial resistance.  This is the same for all people, regardless of whether or not they have McArdle’s….only, with those of us who have the disease, this threshold is reached much quicker.

The way to effectively manage the disease is with diligence and patience and caution and perseverance.  There is in fact plenty of empirical data supporting the notion of a “second wind” phenomenon that people with McArdle’s disease experience following very careful, low-impact periods of warm-up exercise such as walking on reasonably flat ground for sustained periods of time.  Such folks are by no means “over” the symptoms, but they are able to walk almost indefinitely without experiencing failure symptoms.  It is in this “golden” period, following the warm up, that individuals with McArdle’s Disease are enjoying the normal benefits of exercise.

The secondary benefit of this is that, to some degree, their large muscle groups are now behaving somewhat like a normal person’s.  Blood circulation increases, the heart rate is up, and energy metabolism is occuring at a fast enough rate to sustain some physical activity.  It is in this “golden” period that an individual with McArdle’s disease MAY, depending upon their physical state of conditioning, be able to:

  • Play sand volleyball or moderately-paced basketball or soccer
  • Dance
  • Perform outdoor labor
  • Ride a bike up moderate or short inclines
  • Hike up and down reasonably large hills without failure
  • Swim (safely)
  • Paddle a canoe or kayak
  • Possibly even jog

It all depends on the individual.  Just like every other physical trait like hair (straight, or curly?), skin color (light or dark?), or height, how your body metabolizes energy and oxygen and how it reacts chemically to exercise is really inherently genetic and different from person to person.  So, know your limits, but by all means to carefully and diligently push your limits because this is how anyone – McArdle’s Disease or not – makes gains.

Keeping your body healthy is a little trickier with McArdle’s Disease, but the patience you are forced to employ in order to get exercise is something you will benefit from.  That’s more or less universal for all people with and without the disease.

Best of luck!

Sorry it took so long!  There are already a few great websites out there, but since so little is known about the disease, pretty much any time someone new hops onto the scene with some info, we all learn something new.  At least I hope it is this way, and certainly continues to be.

I’ll post as often as I can.  Feel free to chime in.