Satoyoshi syndrome is an extremely rare progressive disease believed to be of autoimmune etiology. To date, there are less than 40 documented cases of Satoyoshi syndrome worldwide.

Also called Komuragueri syndrome, this disorder is characterized by painful muscle spasms, diarrhea, alopecia, secondary skeletal abnormalities, and endocrinopathy with amenorrhoea. Symptoms typically present at a very young age, usually between the sixth and fifteenth year of life. At the onset, the disease manifests with spasms in the leg muscle as well as baldness (or alopecia). The spasms can be extremely painful, and occur frequently with progressive severity. In severe cases, the spasms result in abnormal posturing of the afflicted limbs. As the illness progresses, the spasms spread towards the trunk muscles, the pectoral girdle, the masseters, and eventually to the temporal muscles. Diarrhea usually presents in the first 2 to 3 years as a result of intolerance to carbohydrates or other complex sugars. Endocrinopathy may also occur, including amenorrhea and hypoplasia of the uterus. Children with Satoyoshi syndrome typically stop growing between the ages of ten and twelve. Although Satoyoshi syndrome is not necessarily fatal, the resulting complications (such as malnourishment and/or respiratory failure) can cause the affected individual to die.

The exact cause or specific etiology of Satoyoshi syndrome is currently not known.

satoyoshisyndrome