Satoyoshi syndrome

From WikiMD's Wellnesspedia

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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