Presentation
We present this case to emphasize the importance of recognizing Satoyoshi syndrome, which could go unnoticed if not suspected. [unboundmedicine.com]
ORPHA:3130 Synonym(s): Komuragaeri disease Prevalence: Inheritance: Not applicable Age of onset: Childhood, Adolescent, Adult ICD-10: - OMIM: 600705 UMLS: C1833454 MeSH: C536616 GARD: 160 MedDRA: 10070579 The documents contained in this web site are presented [orpha.net]
A Case of Satoyoshi Syndrome Presented with Progressive Muscular Spasm and Alopecia Kyung Ran Son (Son KR) 1, Jin Hwa Kook (Kook JH) 1, Byung Ju Kim (Kim BJ) 1, Sung Jin Kim (Kim SJ) 2, Jae Sook Ma (Ma JS) 1 1 Department of Pediatrics, Chonnam National [kjp.or.kr]
A case of Satoyoshisyndrome presented with progressive muscular spasm and alope-cia. Korean J Pediatr 2002; 45: 11651169.38 Adachi H, Riku S, Fujishiro K, Kuru S. [docslide.com.br]
Hyperexcitability was present in the H-reflex study, thus suggesting that the spinal cord is the structure most likely responsible for the spasms. This is the first reported case in Spain. The full text of this article is available in PDF format. [em-consulte.com]
Entire Body System
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Short Stature
stature, muscle spasm, and amenorrhea. [documents.tips]
CLINICAL REPORT A 19YL-year-old Caucasian woman was admitted for diagnostic evaluation of amenorrhea, alopecia, bony de- formities, and short stature. She was born to healthy nonconsanguineous parents. [dokumen.tips]
Satoyoshi syndrome - Genetic and Rare Diseases Information Center ; People affected by Satoyoshi syndrome may also have loss of hair on the head and body (alopecia universalis), short stature, and skeletal abnormalities. [ygyequif.ml]
stature Anteverted nares Disproportionate short stature Scoliosis Abnormal facial shape Micrognathia Hearing impairment Melanocytic nevus Clinodactyly of the 5th finger Downslanted palpebral fissures Proportionate short stature Global developmental delay [mendelian.co]
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Movement Disorder
Neil Mahant and Anthony Lang, Leg and back cramps, Movement Disorders, 10.3109/9780203008454-70, (285-290), (2013). [doi.org]
Parkinson's disease and Movement Disorders. USA: Williams and Wilkins; 1998. pp. 796-8. 6. Merello M, Garcia H, Nogues M, Leiguarda R. [neurologyindia.com]
Movement Disorders. November 2006; 21(11):2015-2018. . 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. [rarediseases.info.nih.gov]
Skin
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Ulcer
Ronald A Asherson, Dominic Giampaolo and Michael Strimling, A case of adult-onset Satoyoshi syndrome with gastric ulceration and eosinophilic enteritis, Nature Clinical Practice Rheumatology, 10.1038/ncprheum0839, 4, 8, (439-444), (2008). [doi.org]
A case of adult-onset Sa-toyoshi syndrome with gastric ulceration and eosinophilic enteritis.Nat Clin Pract Rheumatol 2008; 4: 439444.17 Pardal-Fernandez JM, Solera-Santos J, Iniesta-Lopez I, Rodriguez-Vazquez M. [docslide.com.br]
A case of adult-onset Satoyoshi syndrome with gastric ulceration and eosinophilic enteritis. Nature Clin Pract Rheumatol. 2008;4:439-44. 6. Matsuura E, Matsuyama W, Sameshima T, Arimura K. [indianpediatrics.net]
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Dry, Scaly Skin
Slomin AE, Sadick N, Pugliese M, Meyers-Seifer CH (1992): Clinical response of alopecia, trichorrhexis nodosa, and dry, scaly skin to zinc supplementation. J Pediatr 121:890-895. Spencer LV, Callen J P (1987): Hair loss in systemic disease. [dokumen.tips]
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Cutaneous Manifestation
Laman SD, Provost TT (1994): Cutaneous manifestations of lupus ery- thematosus. Rheum Dis Clin North Am 20:195-212. McCarthy JT, Kumar R (1990): Renal osteodystrophy. Endocrinol Metab Clin North Am 19:65-93. [dokumen.tips]
Musculoskeletal
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Genu Valgum
There was total alopecia, generalized wasting, pallor, bowing of lower limbs with genu valgum and pes planus. There was normal muscle tone and grade 5 power in all muscles and no muscle tenderness (except for episodes of spasm). [indianpediatrics.net]
They may include osteolyticalterations and bony deformities within the affected joints.14Radiological findings also include slipping of epiphyses, meta-physeal cysts, bone fragmentation at tendinous insertions,genu valgum and fractures.12,26,32,41,42 [docslide.com.br]
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Arthralgia
Nephritis Inflammatory abnormality of the eye Epidermal acanthosis Choanal atresia Hypopigmentation of the skin Membranous nephropathy Visual impairment Short palm Muscular hypotonia of the trunk Dislocated radial head Prominent occiput Broad hallux Arthralgia [mendelian.co]
Onset
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Onset in Adolescence
ORPHA:3130 Synonym(s): Komuragaeri disease Prevalence: Inheritance: Not applicable Age of onset: Childhood, Adolescent, Adult ICD-10: - OMIM: 600705 UMLS: C1833454 MeSH: C536616 GARD: 160 MedDRA: 10070579 The documents contained in this web site are presented [orpha.net]
Workup
Treatment
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
[…] may be life-limiting due to worsening symptoms if treatment is not successful. [rarediseases.info.nih.gov]
Prognosis
Prognosis and Treatment of Myasthenia Gravis. This drug is indicated for the treatment of myasthenia gravis. MYTELASE should also not be administered to patients with a known hypersensitivity to ambenonium. [hardshipstockbrokers.tk]
Includes symptoms, causes, medications, diagnosis, treatments, prevention, and prognosis information. Aminoglykosidy, ciprofloxacin, imipen, makrolidy. Most myasthenics, with the help of either drugs and. Možn podat ATB a chemoterapeutika. [focusesawake.gq]
Wealso suggest that two subtypes of the disorder should be distinguished, the ANA-positive Satoyoshi syndromewith generally good response to systemic glucocorticosteroid therapy and the ANA-negative Satoyoshi with lessfavorable prognosis. [docslide.com.br]
Etiology
Satoyoshi syndrome - TSpace ; Satoyoshi syndrome (Komuragaeri disease) is a rare disor- der of presumed autoimmune etiology, characterized by painful muscle spasms, alopecia, diarrhea, ... [ygyequif.ml]
It is a rare multisystem disorder of presumed autoimmune etiology that is characterized by alopecia, intermittent painful muscle spasms, diarrhea, and antinuclear antibody positivity. [unboundmedicine.com]
Abstract Satoyoshi syndrome is a rare disorder of unknown etiology characterized by progressive, painful intermittent muscle spasms, severe skeletal abnormalities mimicking a skeletal dysplasia, malabsorption, alopecia, and amenorrhea. [link.springer.com]
The etiology of this disease has not been revealed. [ncbi.nlm.nih.gov]
Epidemiology
Epidemiology There is a recognised female predilection 1. Klip... [ygyequif.ml]
Pathophysiology
However, the pathophysiological basis of SS related MS remains unknown. MS can interfere significantly and even be disabling when severe. [docslide.net]
Gravis, Multiple Sclerosis, and Muscle Spasms Outline Myasthenia Gravis Pathophysiology Acetylcholinesterase. Myasthenia Gravis emphasizing in diagnosis and management as much in. [hardshipstockbrokers.tk]
Prevention
Medications that suppress the immune system may be used to help prevent the immune system from attacking the body. [rarediseases.info.nih.gov]