Satoyoshi Syndrome

If you have read any of the literature on Satoyoshi "syndrome" you know that it is beyond rare with around 50 diagnoses worldwide since 1967.  As my title suggests, it took me 20 years to get an answer to what was happening to me.  When I was 5, I started Kindergarten and that fall I also started have the muscle cramps in my legs.  By the time I started first grade, the muscle cramps had spread to my fingers and eventually every muscle in my body.  They were very painful.  I went to my pediatrician who said "They're just growing pains, they will go away on their own."  We (my parents and I) knew that it was more than growing pains.  We saw several different types of doctors locally then was referred to Vanderbilt Hospital.  We made the rounds through numerous pediatric specialties often hearing "That's very interesting... I have no idea" followed by good-bye.  I spent 10 years getting growth hormone shots and finally decided that I'd had enough while in high school.  As fitting with others who have been diagnosed, I am only 4 foot 4 inches. 

In the past year, I have had the worst medical year I can remember.  I was in the ER for the usual (uncontrollable muscle cramps), unknown digestive problems, and some new problems.  Fortunately, the latter led me to a new Neuro doctor who took up an interest in my case.  She tried several different syndromes (Dopa-responsive Dystonia, Stiff Man Syndrome) and through both her research and my own research we came across something that had been mentioned years ago:  SATOYOSHI!  After reading about the symptoms, I now fully fit the profile for the disease.  However, there is no mention of a way to diagnose, treat, or cure.  There aren't many artcles toward any research being done.

amwshorter amwshorter
26-30, F
2 Responses Mar 5, 2010

It's still only in testing stages for its effects on Satoyoshi Syndrome, but it has cured/worked towards curing other similar diseases.
It might be worth looking into, but I'm not a doctor so don't take my word for anything.

I work with a gentleman who has Oliver Macfarlane syndrome. He was the very first person in the world to be diagnosed with this disability (in 1965.) He is now the oldest person alive and only 12 more people have been diagnosed since then. It can be incredibly difficult to find information because it is simply not out there to find. A syndrome so rare has very few studies, and very little information that has been completed. You can Google away and try to really read deep into anything you find (including stuff you don't understand and try to work it from there.) Good luck.

Thank you for your comment. Thanks to this website I have found that there are 3 of us in the world right now and I hope this site can help us find others. We try to help each other since we are essentially our own guinea pigs! :)