Stiff-Person Syndrome malady
Categories: Rare diseases, Neuronal diseases, Endocrine diseases, Blood diseases, Skin diseases, Infectious diseases
Aliases & Descriptions for Stiff-Person Syndrome:
Orphanet epidemiological data:53
stiff man syndrome:
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (United Kingdom),<1/1000000 (Tanzania, United Republic of); Age of onset: Adult; Age of death: normal life expectancy
progressive encephalomyelitis with rigidity and myoclonus:
Inheritance: Not applicable; Age of onset: Adult
classic stiff person syndrome:
Inheritance: Not applicable; Age of onset: Adult; Age of death: adult,elderly
focal stiff-person syndrome:
Inheritance: Not applicable
Global: Rare diseases, Infectious diseases
Anatomical: Neuronal diseases, Endocrine diseases, Blood diseases, Skin diseases
ICD10: 30 29
OMIM:51 The stiff-person syndrome (SPS) is most often an adult-onset sporadic acquired disorder characterized by progressive... (184850) more...
MalaCards based summary: Stiff-Person Syndrome, also known as stiff man syndrome, is related to progressive encephalomyelitis with rigidity and myoclonus and sm-ahnmd, and has symptoms including Array, Array and Array. An important gene associated with Stiff-Person Syndrome is GAD2 (Glutamate Decarboxylase 2), and among its related pathways are Beta-alanine metabolism (TR) and Alanine, aspartate and glutamate metabolism. Affiliated tissues include thyroid, skin and eye, and related mouse phenotypes are no phenotypic analysis and respiratory system.
Disease Ontology:11 A movement disease that is of unknown etiology characterized by progressive rigidity.
NINDS:48 Stiff-person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease.
NIH Rare Diseases:47 Stiff person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease. Symptoms may include muscle stiffness in the trunk and limbs, and heightened sensitivity to noise, touch, and emotional distress, which can set off muscle spasms. Affected people may also have abnormal postures, such as being hunched over. SPS affects twice as many women as men. It is frequently associated with other autoimmune diseases such as diabetes, thyroiditis, vitiligo, and pernicious anemia. The exact causes of SPS is not known. Treatment may involve high-dose diazepam, anti-convulsants, or intravenous immunoglobulin (IVIG). Last updated: 10/8/2014
Wikipedia:70 Stiff person syndrome (SPS), also known as stiff man syndrome (SMS), is a rare neurologic disorder of... more...
Human phenotypes related to Stiff-Person Syndrome:53 63 (show all 29)
UMLS symptoms related to Stiff-Person Syndrome:muscle rigidity, muscle spasticity, torticollis, cogwheel rigidity, opisthotonus, hyperexplexia, drop attack, increased sweating, abnormal muscle tone, anal sphincter atony, nuchal rigidity
Drugs for Stiff-Person Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 12)
Interventional clinical trials:
Search NIH Clinical Center for Stiff-Person Syndrome
MalaCards organs/tissues related to Stiff-Person Syndrome:35
Thyroid, Skin, Eye, T cells, Cortex, Colon, B cells
MGI Mouse Phenotypes related to Stiff-Person Syndrome:40
Articles related to Stiff-Person Syndrome:(show top 50) (show all 259)
Search GEO for disease gene expression data for Stiff-Person Syndrome.
Pathways related to Stiff-Person Syndrome according to GeneCards Suite gene sharing:(show all 14)
Cellular components related to Stiff-Person Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Stiff-Person Syndrome according to GeneCards Suite gene sharing:(show all 14)
Molecular functions related to Stiff-Person Syndrome according to GeneCards Suite gene sharing:(show all 7)
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet