Rare Gastroenterology News

Disease Profile

Satoyoshi syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Childhood

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ICD-10

-

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

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

Categories

Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases;

Summary

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).[1] 

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.[2] The exact cause of the syndrome is unknown, but some researchers think it may be an autoimmune disease.[1] 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.[3][4][5] Treatment for Satoyoshi syndrome includes medication to suppress the immune system.[2]

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).[1]

People with Satoyoshi syndrome may have skeletal problems due to repeated injury to the bone caused by muscle spasms.[2] 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).[1]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of epiphysis morphology
Abnormal shape of end part of bone
0005930
Abnormality of femur morphology
Abnormality of the thighbone
0002823
Abnormality of the hip bone
Abnormality of the hips
0003272
Abnormality of the humerus
0003063
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
0000944
Abnormality of the wrist
Abnormalities of the wrists
0003019
Alopecia universalis
0002289
Amenorrhea
Abnormal absence of menstruation
0000141
Genu varum
Outward bow-leggedness
Outward bowing at knees

[ more ]

0002970
Hyperlordosis
Prominent swayback
0003307
Hypoplasia of the ovary
Underdeveloped ovary
0008724
Hypoplasia of the uterus
Small uterus
Underdeveloped uterus

[ more ]

0000013
Intermittent painful muscle spasms
0011964
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Nephrogenic diabetes insipidus
0009806
Short stature
Decreased body height
Small stature

[ more ]

0004322
Sparse or absent eyelashes
0200102
Tapered finger
Tapered fingertips
Tapering fingers

[ more ]

0001182
5%-29% of people have these symptoms
Brachydactyly
Short fingers or toes
0001156
Short metacarpal
Shortened long bone of hand
0010049
Short metatarsal
Short long bone of foot
0010743
Percent of people who have these symptoms is not available through HPO
Alopecia
Hair loss
0001596
Diarrhea
Watery stool
0002014
Fatigue
Tired
Tiredness

[ more ]

0012378
Genu valgum
Knock knees
0002857
Malabsorption
Intestinal malabsorption
0002024
Mildly elevated creatine kinase
0008180
Muscle spasm
0003394
Osteolytic defects of the phalanges of the hand
Breakdown of small bones of fingers
0009771
Pes planus
Flat feet
Flat foot

[ more ]

0001763
Skeletal muscle hypertrophy
Increased skeletal muscle cells
0003712
Sporadic
No previous family history
0003745

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 nervousgastrointestinal, and endocrine systems.[6] 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.[7] 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).[2] 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.[6]

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.[3] 

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 antibodiesrelated to Satoyoshi syndrome.[3] It may also be helpful to study how the muscles behave when they are spasming, so electromyography (EMG) may be recommended.[4] 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.[5]

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.[1][2] 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.[2] 

In some cases, plasmapheresis has been shown to help improve symptoms of people with Satoyoshi syndrome who have not responded to other treatment options.[8]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    In-Depth Information

    • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
    • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Satoyoshi syndrome. Click on the link to view a sample search on this topic.

      References

      1. Satoyoshi syndrome. Online Mendelian Inheritance of Man (OMIM). November 28, 2012; https://omim.org/entry/600705.
      2. Heger S, Kuester RM, Volk R, Stephani U, and Sippell WG.. Satoyoshi syndrome: A rare multisystemic disorder requiring systemic and symptomatic treatment. Brain and Development. June 2006; 28(5):300-304. https://www.ncbi.nlm.nih.gov/pubmed/16478652.
      3. Rudnicka L, Kwiatowska M, Rakowska A, and Olszewska M. Diagnostic criteria for Satoyoshi syndrome. Journal of the American Academy of Dermatology. May 2015; 72(5):AB112. https://www.jaad.org/article/S0190-9622(15)00583-6/abstract.
      4. Drost G, Verrips A, van Engelen BG, Stegeman DF, and Zwarts MJ. Involuntary painful muscle contractions in Satoyoshi syndrome: a surface electromyographic study. Movement Disorders. November 2006; 21(11):2015-2018. https://www.ncbi.nlm.nih.gov/pubmed/16972238.
      5. Solera J, Rallo B, Herranz AS, Pardal JM, del Rio RM, and de Cabo C. High glycine levels in the cerebrospinal fluid in Satoyoshi syndrome. Journal of the Neurological Sciences. October 2015; 357(1-2):312-313. https://www.ncbi.nlm.nih.gov/pubmed/26190524.
      6. Matsuura E, Matsuyama W, Sameshima T, and Arimura K. Satoyoshi syndrome has antibody against brain and gastrointestinal tissue. Muscle and Nerve. September 2007; 36(3):400-403. https://www.ncbi.nlm.nih.gov/pubmed/17405137.
      7. Rudnicka L, Kwiatkowska M, Rakowska A, Czuwara J, and Olzewska M. Alopecia areata. How not to miss Satoyoshi syndrome?. The Journal of Dermatology. November 2014; 41(11):951-956. https://www.ncbi.nlm.nih.gov/pubmed/25289915.
      8. Aghoram R, Srijithesh PR, and Kannoth S. Adult-onset Satoyoshi syndrome and response to plasmapheresis. Annals of Indian Academy of Neurology. 2016; 19(1):131-133. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782532/.
      9. Sharpe A, Mahadasu S, Manda P, and Meneni D. Satoyoshi syndrome in pregnancy. European Journal of Obstetrics & Gynecology and Reproductive Biology. April 2016; 199:215-216. https://www.ncbi.nlm.nih.gov/pubmed/26947175.

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