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Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates (malabsorption). People affected by Satoyoshi syndrome may also have loss of hair on the head and body (alopecia universalis), short stature, and skeletal abnormalities. Women with Satoyoshi syndrome may not have a menstrual cycle (amenorrhea). In all published cases, only one person in a family has Satoyoshi syndrome. This is even true when the person with Satoyoshi syndrome comes from a large family. Satoyoshi syndrome seems to be more common in Japan. The exact cause of the syndrome is unknown, but some researchers think it may be an autoimmune disease. Satoyoshi syndrome can be diagnosed when a doctor sees symptoms that are consistent with the syndrome. The diagnosis can be confirmed by a variety of laboratory tests. Treatment for Satoyoshi syndrome includes medication to suppress the immune system.
Features include sometimes findings: Brachydactyly, Short metacarpal, and Short metatarsal. 18 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Muscles | 3 | Abnormality of the musculature, Muscle spasm, Skeletal muscle hypertrophy |
Biomarker and diagnostic research for Satoyoshi syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Satoyoshi syndrome.
3 publications have been identified in PubMed for Satoyoshi syndrome. Research spans Case Report / Case Series (67%) and Diagnostic / Biomarker (33%).
Pohoreski KT (2026). [PMID: 42110117](https://pubmed.ncbi.nlm.nih.gov/42110117/). *JPGN Rep*. [Case Report / Case Series]
Gong Y (2025). [PMID: 40510477](https://pubmed.ncbi.nlm.nih.gov/40510477/). *Front Endocrinol (Lausanne)*. [Case Report / Case Series]
Sevilla Avendaño JM (2025). [PMID: 41226088](https://pubmed.ncbi.nlm.nih.gov/41226088/). *Diagnostics (Basel)*. [Diagnostic / Biomarker]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:55 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Satoyoshi syndrome
2 |
Diarrhea, Malabsorption |
Skin | 2 | Alopecia universalis, Alopecia |
Bones and joints | 2 | Osteolytic defects of the phalanges of the hand, Skeletal muscle hypertrophy |
Growth and development | 1 | Short stature |
Hormones | 1 | Amenorrhea |
Brain and nerves | 1 | Fatigue |
Lab test results | 1 | Mildly elevated creatine kinase |
Arms and legs | 1 | Osteolytic defects of the phalanges of the hand |