Satoyoshi syndrome

Title

Other Names:

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

Categories:

Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases; Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases; Female Reproductive Diseases; Skin Diseases See More

Summary 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]

Last updated: 7/23/2017

Symptoms 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]

Last updated: 7/23/2017

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abnormality of epiphysis morphology	Very frequent (present in 80%-99% of cases)
Abnormality of femur morphology	Very frequent (present in 80%-99% of cases)
Abnormality of the hip bone	Very frequent (present in 80%-99% of cases)
Abnormality of the humerus	Very frequent (present in 80%-99% of cases)
Abnormality of the metaphysis	Very frequent (present in 80%-99% of cases)
Abnormality of the wrist	Very frequent (present in 80%-99% of cases)
Alopecia universalis	Very frequent (present in 80%-99% of cases)
Amenorrhea	Very frequent (present in 80%-99% of cases)
Genu varum	Very frequent (present in 80%-99% of cases)
Hyperlordosis	Very frequent (present in 80%-99% of cases)
Hypoplasia of the ovary	Very frequent (present in 80%-99% of cases)
Hypoplasia of the uterus	Very frequent (present in 80%-99% of cases)
Intermittent painful muscle spasms	Very frequent (present in 80%-99% of cases)
Microcephaly	Very frequent (present in 80%-99% of cases)
Nephrogenic diabetes insipidus	Very frequent (present in 80%-99% of cases)
Sparse or absent eyelashes	Very frequent (present in 80%-99% of cases)
Tapered finger	Very frequent (present in 80%-99% of cases)
Brachydactyly	Occasional (present in 5%-29% of cases)
Short metacarpal	Occasional (present in 5%-29% of cases)
Short metatarsal	Occasional (present in 5%-29% of cases)
Diarrhea	-
Genu valgum	-
Malabsorption	-
Mildly elevated creatine phosphokinase	-
Osteolytic defects of the phalanges of the hand	-
Pes planus	-
Skeletal muscle hypertrophy	-
Sporadic	-

Last updated: 10/1/2017

Cause 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.^[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]

Last updated: 7/23/2017

Inheritance 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.^[1]

Last updated: 7/23/2017

Diagnosis 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]

Last updated: 7/23/2017

Treatment 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]

Last updated: 7/23/2017

Prognosis 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.^[2] 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.^[9]

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.^[2]

Last updated: 7/23/2017

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Organizations 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

American Hair Loss Association
23679 Calabasas Road # 682
Calabasas, CA 91301-1502
E-mail: inquire@americanhairloss.org
Website: http://americanhairloss.org
Dystonia Medical Research Foundation
1 East Wacker Drive
Suite 1730
Chicago, IL 60601-1905
Toll-free: 800-377-3978
Telephone: 312-755-0198
Fax: 312-803-0138
E-mail: dystonia@dystonia-foundation.org
Website: http://www.dystonia-foundation.org

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Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More 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.

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References References

Satoyoshi syndrome. Online Mendelian Inheritance of Man (OMIM). November 28, 2012; http://omim.org/entry/600705.
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.
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. http://www.jaad.org/article/S0190-9622(15)00583-6/abstract.
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.
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.
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.
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.
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/.
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.