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McArdle's Disease

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Noah Daoust

on 13 February 2014

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Transcript of McArdle's Disease

The Disorder
McArdle's disease is a metabolic disorder in which the skeletal muscles cannot break down glycogen into glucose. Additionally, those born with McArdle's disease are unable to produce the enzyme muscle phosphorylase
It is also known as myophosphorylase deficiency or Type V glycogen storage disease
Discovered by Dr. Brian McArdle in 1951
Symptoms & Effects
People who suffer from McArdle's disease experience all of the following symptoms -
Difficulty performing moderately intense activities (jogging, swimming, hills)
Muscle Failure
Cramping (due to rhabdomyolysis)
Unfortunately for those living with McArdle's, there is no treatment that exists today. However, those who suffer from the disease can help themselves by staying fit and being discplined enough to have a good warm-up before exercising.
Interesting Facts
McArdle's is a very rare disease, affecting 1 in every 10,000
It is very difficult to diagnose in a child, but must people suffer from it since childhood and are diagnosed when they are adults.
Unlike any other disorder, McArdle's has its own Facebook page and support groups.
Diagram of McArdle's Disease
Doctors will often perform an Ischemic Forearm Test, in which they measure the concentration of lactic acid before and after physical exertion. If the numbers change slightly or not at all, then they know the patient has McArdle's. Another popular way to diagnose is by performing muscle biopsy, which is a microscopic examination of myophosphorylase, and when absent doctors can conclude McArdle's.
Symptoms & Effects (cont'd)
Premature Exhaustion
Myoglobinuria (producing dark urine)
Muscle Stiffness
Poor Stamina
Interestingly enough, patients who suffer from McArdle's have be known to experience a "second wind", referring to a a period of heightened ability post warm-up. Although they do not achieve an elite level, they are able to get normal heart rates and experience relief while doing exercise.
Thankfully, those who suffer from McArdle's can and do live relatively normal lives. This disease only limits them athletically, but they can still live in many of the same ways.
McArdle's Disease
by - Noah Daoust

http://mcardlesdisease.org/. N.p., n.d. Web. 13 Feb. 2014.
http://www.nlm.nih.gov/medlineplus/ency/article/000329.htm. N.p., n.d. Web. 13 Feb. 2014.
http://www.nytimes.com/health/guides/disease/mcardle-syndrome/overview.html. N.p., n.d. Web. 13 Feb. 2014.

Myophosphorylase Chromosome
Here is an example of myophosphorylase deficiency (Gene ID: 5837)
Full transcript