Satoyoshi syndrome

Satoyoshi syndrome
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Synonyms	Komuragaeri disease
Pronounce
Field	immunology
Symptoms
Complications
Onset
Duration
Types
Causes
Risks
Diagnosis
Differential diagnosis
Prevention
Treatment
Medication
Prognosis
Frequency
Deaths

Alternate names

Komuragaeri Disease; Muscle spasms, intermittent with alopecia, diarrhea and skeletal abnormalities

Definition

Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms.

Cause

• 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

• 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

• 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

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

• 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

• 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

• 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

• NIH info on Satoyoshi syndrome

Satoyoshi syndrome is a rare disease.

Satoyoshi syndrome Resources
Most recent articles Ongoing trials	Wikipedia