This information is graciously "borrowed" from Ruth Speary's MD web page

           
McArdle's Syndrome a Neuro Mucsular Disease is also Known As:

                                                         Glycogen Storage Disease Type V

                                                             Myophosphorylase Deficiency

                                                   Muscle Glycogen Phosphorylase Deficiency

                                                                  McArdle's Glycogenosis

                                                                    Type V Glycogenosis

                                                                     McArdle's Myopathy

                                                                     McArdle's Dystrophy

                                                              McArdle's Muscular Myopathy

                                                                     McArdle's Syndrome

What You May Already Know:

McArdle's disease is caused by a genetic defect that results in an inability of muscle to break down glycogen (a form of carbohydrate stored in the muscles).

McArdle's patients suffer severe pain, fatigue, cramps and muscle hardening during normal everyday activities. This pain can last for hours, days or weeks and can lead to permanent muscular weakness.

McArdle's disease can lead to kidney damage and/or acute renal failure.

Severity of symptoms & progression vary  quite a bit among McArdle's patients.
       

What You May Not Know:


The first case of McArdle's disease was diagnosed in 1951 by English physician Dr. Brian McArdle. By the late 1980's there were less than 100 known cases world wide. Since then, there has been a steady increase in the number of cases diagnosed.

Many life long sufferers are finally being diagnosed in their 40's, 50's and 60's. It is now believed that there are many more yet undiagnosed cases.

Due to the fact that there were so few reported cases - therefore little information - McArdle's disease remained some what of a mystery to both patients & physicians.

Due to its rarity, McArdle's can be easily missed by physicians.

Most symptoms can be attributed to something else or dismissed since the doctor may believe the patient is simply "out of shape".

Interpretation of symptoms as psychoneurosis is frequent.

A rare disease is the last thing a physician expects to find, therefore it will be the last thing he is looking for.

Many cases have not been diagnosed until a patient presented with acute renal failure.

Because of this, many patients have endured psychological pain as well as the physical pain associated with their disease.

With Doctors unable to find anything wrong and families and friends unable to understand why they just couldn't "keep up", patients constantly had to convince others that they were not just lazy, crazy or out of shape.

While McArdle's is still rare, it is no longer as rare as it was once thought to be.

It is also no longer as much of a mystery as it once was. There is information, there is help & there is support for those affected.



                                    Some of the information in this article comes from the
                                          MDA publication, 
Running On Empty written by:
                                              
Ruth Speary, Chris Tapley & Keith Stout.

                                                      
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