Monday, February 22, 2016

Myotonia congenita

Tennessee Fainting Goats have a genetic condition called myotonia congenita.  Their muscles "lock-up" when they become excited.  They also stack on big slabs of muscle due to the condition.
Have you ever had one of those conversations in the bleachers that sets a little bell to ringing in your head?

I was talking with the dad of one of the "weight room" kids.  This kid pegged the meter when it came to being able to put on muscle mass in a hurry.

I am sure they got it from the dad.

Working in a warehouse


The dad told me that he was a supervisor in a warehouse.  About half his time was spent in an office and the rest of it was on the floor, driving around on a scooter.

About twice a month he would join "the guys" and lift at the gym.  So how much do you think he can bench press?  Remember, he has a sedentary job, is forty years old and only works out twice a month.

He said that he usually tops out between 350 and 400 pounds.  He might have been lying to me...but he sure looked like he could bench that much.  That degree of strength sounds super-human to me.

Full-body cramp


The dad went on to tell me about his glory days playing football.

He was a running back.  One game he had broken through a hole in the line.  He was streaking from midfield toward the endzone.  There was NOBODY who was going to be able to catch him.

He did not score.  He locked up in a full-body cramp at the 15 yard line and dropped like a side of beef on the 10.



It sounded a bit like Tennessee Fainting Goats to me.

Myotonia congenita


Myotonia congenita  occurs in humans at a rate of approximately one person in every 100,000 people.  It is inherited, so some populations have higher rates than others.  For example, people of Northern Scandinavian descent are ten times more likely to have it (1:10,000) than the general population.

One wonders how long it will be before genetic testing will become part of college coach's recruiting toolbox.

Imagine that there are large framed former athletes with this condition.  Further, suppose they stopped pursuing athletics in middle school due to painful cramping before, during and after practice.

Given proper support (lots of stretching, trainers, pharmaceuticals, ice, warm-ups, even more stretching, etc.) these people could perform at a level that would make them look like a different species on the playing field.  The first coaches to start looking for these kinds of athletes would have a big advantage because those athletes are invisible to competing coaches.


Lamb with callipyge gene on left.  Regular lamb with similar breeding on right.
There are other genes that may be of interest to an athletic coach.  The callipyge gene for instance.  Callipyge is Greek for "Beautiful Buttocks".  I bet we could find it in humans if we looked hard enough.

Regarding the morality of genetic testing as a recruiting tool, one must consider that the individual benefits by knowing if they have an unusual condition that might preclude the uses of certain drugs or therapies.

Take home messages:

  • Don't get athletes with myotonia congenita excited unless you have a fork truck handy.
  • A person with a good looking derrière can be accurately described as having callipyge...but don't say it with a leer.

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