| Statistics McArdle’s Syndrome (Glycogen Storage Disease Type V) is a rare genetically inherited Neuro-Muscular disease. The chances of you genetically inheriting McArdle's Syndrome are about: · 1 in 500,000 (1 in 1/2 million) Since this genetic disease is rare -- no actual statistics are kept on patients diagnosed with McArdle’s Syndrome. The above numbers have been gleaned from known credible estimates. My Search for a Diagnosis I have McArdle’s Syndrome. The medial professionals responsible for my care were not looking for a rare genetically inherited Neuro-Muscular disease when they began their search for a diagnosis. It is important to note that my eventual diagnosis was somewhat complicated by the fact I had a left quadriceps tendon resection and transplant in 1999 after falling on a patch of ice. Another factor that somewhat hampered the diagnostic process was the severe elevation of my CPK levels immediately following my quadriceps resection and transplant surgery. A very brilliant 23-year-old physicians assistant by the name of Michelle Day (Pargoe) was the first to notice that 21-months after my quadriceps resection and transplant surgery my CPK levels had not stabilized. Michelle Day (Pargoe) knew something was wrong and ordered a battery of tests to establish a diagnosis. A muscle biopsy revealed the death of nerve cells as well as the atrophy of muscle tissue. In the late summer of 2001 the doctors could only safely agree on one thing for sure. I had a muscle myopathy. No one felt comfortable in taking it any further. Several more months passed by before I got a solid medical diagnosis of adult onset McArdle’s Syndrome. Dr. Martin Weinberg, MD of the Hershey Medical Center, Hershey, PA along with Dr. Julie Fieschko, MD of the Lebanon Veteran’s Administration Medical Center, (LVAMC) Lebanon, PA, made the final diagnosis. What is it like to live with McArdle’s Syndrome (GSD Type V)? Did you ever have a sunburn that leaves your skin scorched, on fire and extremely sensitive to the touch? Well, that’s what I feel like everyday with GSD Type V. While most people get over a bad sunburn in a week or two the burning fire and extreme sensitivity I feel from McArdle’s Syndrome never goes away. The intensity of the extreme sensitivity and burning varies throughout the day and can vary immensely from day to day. The burning and extreme sensitivity is felt most noticeably in my legs and arms. Surely, the most uncomfortable aspect of having McArdle’s Syndrome has to be the severe and excruciatingly painful muscle cramps. Some of these cramps can last for several weeks. The most severe cramps in my arms, shoulders, leg and abdomen muscles have often lasted for several hours without letting up. The only thing that gives me immediate relief from severe cramping is to place hot towels over the cramped muscles until they release. Several things have helped me to dramatically reduce the incidence of severe cramping. Oxygen therapy (PRN) has proven to be affective in controlling the worst symptoms of McArdle’s Syndrome. The incidence of sudden onset debilitating muscle cramps has been dramatically reduced by the prudent use of oxygen therapy (PRN). I'm also taking the following medications to better control the most severe symptoms of GSD Type V. Duragesic Fentanyl (a strong narcotic), Diclofenac (an anti-inflamatory drug), Methocarbamol (muscle relaxer), Potassium Chloride and Gabapentin (reduces muscle burning). Symptoms Scientists have identified 12 different types of GSD's within the genetically inherited neuro-muscular disease group of Glycogen Storage Diseases (GSD's). There are sub-groups found in some of the GSD catagories. McArdles Syndrome --also known as GSD Type V does not have a sub-group at this time. Those of us who have GSD Type V share many of the same symptoms like crampiing, muscle fatigue, muscle burning, muscle weakness etc. However, many of us find that our symptoms vary widely from others diagnosed with GSD Type V. A large percentage of people with GSD Type V live normal lives with few problems. Others have mild to moderate symptoms with only a few limitations. While others like me experience the more debilitating symptoms of McArdle's Syndrome (GSD Type V). |
 |
 |