Satoyoshi syndrome

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Satoyoshi syndrome, also known as Komuragueri syndrome, is a rare progressive disorder of presumed autoimmune etiology, characterized by painful muscle spasms, alopecia, diarrhea, endocrinopathy with amenorrhoea and secondary skeletal abnormalities.[1] The syndrome was first reported in 1967 by Eijito Satoyoshi and Kaneo Yamada in Tokyo, Japan. To this date, less than 40 cases worldwide have been reported for the Satoyoshi syndrome.

People with the syndrome typically develop symptoms of the illness at a young age, usually between the age of six and fifteen years old. The initial symptoms are muscle spasms in the legs and alopecia, also known as baldness. The spasms are painful and progressive and their frequency varies from 1 or 2 to 100 per day, each lasting a few minutes. It can be sufficiently severe to produce abnormal posturing of the affected limbs, particularly the thumbs. With progression the illness involves the pectoral girdle and trunk muscles and finally the masseters and temporalis muscles. The spasms usually spare the facial muscles. Severe spasms can interfere with respiration and speech. During an attack-free period, non-stimulus-sensitive myoclonus can occur in the arms, legs and neck. Diarrhea occurs in the first 2-3 years with intolerance to carbohydrate and high glucose diets. Endocrinopathy manifests as amenorrhea and hypoplasia of the uterus. Affected children fail to attain height after 10-12 years of age.[2]

The syndrome is not fatal per se, but some patients have died as a result of syndrome complications, such as respiratory failure or malnourishment.