Satoyoshi syndrome
Alternate names[edit | edit source]
Komuragaeri Disease; Muscle spasms, intermittent with alopecia, diarrhea and skeletal abnormalities
Definition[edit | edit source]
Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms.
Cause[edit | edit source]
- Scientists don’t yet understand exactly what causes Satoyoshi syndrome, but research suggests that it is caused by the immune system mistakenly attacking cells in the nervous, gastrointestinal, and endocrine systems.
- Normally, our immune system protects our body by attacking and destroying disease causing bacteria and viruses, but during an autoimmune response, the immune system attacks healthy cells of its own body.
- About 60% of people with Satoyoshi syndrome have antinuclear antibodies in their bloodstream.
- These antibodies are produced by the immune system and attack the nucleus of cells throughout the body.
- Other people with Satoyoshi syndrome may have other antibodies as well, such as antibodies against glutamic acid decarboxylase (GAD).
- For people with Satoyoshi syndrome, it is thought that these antibodies target the nervous system, causing muscle spasms, and the gastrointestinal system, causing diarrhea and malabsorption.
- In some cases the antibodies may attack the hormone or endocrine system in women, causing amenorrhea.
Inheritance[edit | edit source]
- As is the case with most autoimmune diseases, there are no genetic changes that are known to cause or raise the risk of developing Satoyoshi syndrome.
- In general, scientists believe autoimmune disorders are caused by a combination of genetic and environmental factors, so often, especially in large families, more than one person has the autoimmune disease.
- But there have not been any reported cases of more than one family member having Satoyoshi syndrome.
- Therefore it is not clear if there are any inherited genetic factors that increase the risk of developing Satoyoshi syndrome.
Signs and symptoms[edit | edit source]
- Symptoms of Satoyoshi syndrome typically begin between the age of 6-15 years and include painful muscle spasms, loss of hair on the scalp and body (alopecia universalis), and gastrointestinal problems such as diarrhea.
- The muscle spasms may worsen if left untreated.
- Gastrointestinal problems may also include an inability to absorb nutrients from food (malabsorption), especially carbohydrates.
- Women with Satoyoshi syndrome may not have a menstrual cycle (amenorrhea).
- People with Satoyoshi syndrome may have skeletal problems due to repeated injury to the bone caused by muscle spasms.
- Skeletal problems include pain and stiffness in the joints, bone cysts, and stress fractures.
- If the symptoms of Satoyoshi syndrome begin before a person has finished growing, the person may be shorter than other family members (short stature).
Clinical presentation[edit | edit source]
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Abnormality of epiphysis morphology(Abnormal shape of end part of bone)
- Abnormality of femur morphology(Abnormality of the thighbone)
- Abnormality of the hip bone(Abnormality of the hips)
- Abnormality of the humerus
- Abnormality of the metaphysis(Abnormality of the wide portion of a long bone)
- Abnormality of the wrist(Abnormalities of the wrists)
- Alopecia universalis
- Amenorrhea(Abnormal absence of menstruation)
- Genu varum(Outward bow-leggedness)
- Hyperlordosis(Prominent swayback)
- Hypoplasia of the ovary(Underdeveloped ovary)
- Hypoplasia of the uterus(Small uterus)
- Intermittent painful muscle spasms
- Microcephaly(Abnormally small skull)
- Nephrogenic diabetes insipidus
- Short stature(Decreased body height)
- Sparse or absent eyelashes
- Tapered finger(Tapered fingertips)
5%-29% of people have these symptoms
- Brachydactyly(Short fingers or toes)
- Short metacarpal(Shortened long bone of hand)
- Short metatarsal(Short long bone of foot)
Diagnosis[edit | edit source]
- A diagnosis of Satoyoshi syndrome is typically made based on a person having symptoms consistent with the syndrome.
- One research group suggests the diagnsosis of Satoyoshi syndrome may be based on a person having alopecia, muscle spasms, and gastrointestinal problems such as diarrhea.
- A number of laboratory tests may also be completed to confirm the diagnosis of Satoyoshi syndrome.
- A doctor may recommend a blood test to look for antibodies related to Satoyoshi syndrome.
- It may also be helpful to study how the muscles behave when they are spasming, so electromyography (EMG) may be recommended.
- Some reports also suggest that people with Satoyoshi syndrome have elevated levels of glycine in their cerebrospinal fluid (CSF), so a CSF collection may also be recommended.
Treatment[edit | edit source]
- There is no cure for Satoyoshi syndrome, but treatments are available for the different symptoms a person may have.
- Medications that suppress the immune system may be used to help prevent the immune system from attacking the body.
- These medications may include corticosteroids.
- Certain medications may work better for some people than others, so a doctor may have to try different medications to find the exact combination that works best for each person.
- In some cases, plasmapheresis has been shown to help improve symptoms of people with Satoyoshi syndrome who have not responded to other treatment options.
Prognosis[edit | edit source]
- The long-term outlook for people affected by Satoyoshi syndrome may vary.
- Some people with the syndrome respond well to treatment and symptoms may completely go away.
- Other people may not get better with current treatment options.
- Although women with Satoyoshi syndrome may have irregular menstrual periods, there have been reports of women with the syndrome who were able to become pregnant.[
- Satoyoshi syndrome may be life-limiting due to worsening symptoms if treatment is not successful.
- Satoyoshi syndrome may also be life-limiting if a person with the condition suffers from mental health problems due to the symptoms causing challenges in daily living.
NIH genetic and rare disease info[edit source]
Satoyoshi syndrome is a rare disease.
Satoyoshi syndrome Resources | ||
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