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Disease Profile
Satoyoshi syndrome
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.
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Age of onset
Childhood
ICD-10
-
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
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
Symptoms
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 (
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 | |
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 | ||
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
About 60% of people with Satoyoshi syndrome have antinuclear antibodies in their bloodstream.[7] These
Diagnosis
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
Treatment
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
-
American Hair Loss Association
23679 Calabasas Road # 682
Calabasas, CA 91301-1502
E-mail: [email protected]
Website: https://americanhairloss.org -
Dystonia Medical Research Foundation
1 East Wacker Drive
Suite 1730
Chicago, IL 60601-1905
Toll-free: 1-0800-377-3978
Telephone: +1-312-755-0198
Fax: +1-312-803-0138
E-mail: [email protected]
Website: https://dystonia-foundation.org/
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
- Satoyoshi syndrome. Online Mendelian Inheritance of Man (OMIM). November 28, 2012; https://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. https://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.
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