http://www.ccad.uiowa.edu/vsr/

They are attempting to commercialize the software. I’m mainly interested to see if computational modeling like they are doing could be applied to McArdle’s Research. I know they use Santos to see how much gear they can load onto a soldier, walk him around and see what he can physically handle. I imagine whatever numerical models drive that could certainly be modified to reflect our energy bottleneck, right?

Simulation capabilities are getting better every day and a high fidelity, biomechanically accurate human model could be really relevant for McArdle’s issues

This link discusses strength and fatigue modeling using a computerized simulation. ?Such a model might one day help doctors visualize the physical limitations imposed by the disease.

People who have McArdle’s disease may experience injury without even consciously over-exerting themselves, for example while carrying a heavy box for a few moments. Since muscles need chemical energy to relax as well as contract, an abrupt and precipitous drop in the cell’s immediately-available energy can subject cramped muscle fibers to forces that exceed their tensile strength. This is probably what causes the injury.

Anyone who has experienced McArdle’s “cramping” knows that the cramp itself is just an indicator that the muscle has actually been injured. In addition to immediate inflexibility, swelling, and pain, other symptoms such as myoglobinuria and fever may follow after one tries to extend the cramped limb and “walk off” the injury. To date, there is no treatment for McArdle’s disease, and the typical E.R. treatment for these cramping injuries usually involves intravenous saline and pain relievers. The more unlucky individuals wind up being treated for impaired renal function.

Another problem with these injuries is the difficulty regaining strength and flexibility in the injured areas. ?To date, the medical world cannot successfully regenerate muscle cells in a therapeutic application for humans, but there is promising research on the horizon. Until then, people who have sustained repeated muscle injuries have to make do with what they have.

What People with McArdle’s Disease Can Do About It

• Be Fit
  Most clinical research on McArdle’s disease suggests that a regimen of disciplined, regular physical activity of an appropriate intensity and duration can not only improve symptoms but also make muscles less susceptible to injury.
• Be Flexible
  Flexibility decreases risk of additional injury in the affected area as well as other areas which may be secondarily weakened by that inflexibility. For some people with McArdle’s disease, stretching following walking offers immediate and dramatic pain relief.
• Be Aware, Be Patient and WARM UP
  It’s very easy to over-do it and get an injury quickly without even realizing it. ?Be conscious of your energy levels, your blood sugar, your heart rate, and your general feeling of wellness. Don’t avoid physical activity altogether, but when undertaking anything remotely strenuous understand that you do not have the luxury of being able to rush things. Take your time and get properly warmed up.Once you’re warmed up, stretch periodically.

McArdle’s disease doesn’t have to leave you sedentary and in pain.The more you know and do, the better off you are.

• “Normal pregnancy and successful delivery in myophosphorylase deficiency (McArdle’s disease)” - J Neurol Neurosurg Psychiatry. 1973 April; 36(2): 225–227.
  Note: this article, published 35 years ago in 1973, suggests that it is not unreasonable to expect a normal pregnancy and delivery for mothers with McArdle’s disease.
• “McArdle’s Disease, Postsurgical Risks Associated with Anesthesia – Implications in Postsurgical Recovery” - By Christine Cadena, published Aug 11, 2008, Associated Content
  Note: in the event of cesarean childbirth, care should be taken to manage the symptoms of McArdle’s disease that may be affected by the administration of anesthesia.  There is presently no consensus opinion that McArdle’s disease is exacerbated by anesthesia, but this article and others contain noteworthy observations.

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.)

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

Relevant links:

• Hormonal Response to Exercise (World of Sports Science
• Exercise’s Effects on Bones and Muscles (Healthcentral Diabetes)

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

Sources:

• Hormonal Response to Exercise (World of Sports Science
• Exercise’s Effects on Bones and Muscles (Healthcentral Diabetes)

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.

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.

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?

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!