Stiff-Person Syndrome malady
Categories: Rare diseases, Neuronal diseases, Endocrine diseases
Aliases & Descriptions for Stiff-Person Syndrome:
Orphanet epidemiological data:52
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
Anatomical: Neuronal diseases, Endocrine diseases
ICD10: 29 28
OMIM:50 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 sm-ahnmd and smith-magenis syndrome, and has symptoms including muscle rigidity, muscle spasticity and torticollis. An important gene associated with Stiff-Person Syndrome is GAD2 (Glutamate Decarboxylase 2), and among its related pathways are Synaptic Neurotransmission Pathways: GABAergic Inhibition and Alanine, aspartate and glutamate metabolism. Affiliated tissues include thyroid, spinal cord and brain, and related mouse phenotypes are respiratory system and no phenotypic analysis.
Disease Ontology:11 A movement disease that is of unknown etiology characterized by progressive rigidity.
NIH Rare Diseases:46 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
NINDS:47 Stiff-person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease. SPS is characterized by fluctuating muscle rigidity in the trunk and limbs and a heightened sensitivity to stimuli such as noise, touch, and emotional distress, which can set off muscle spasms. Abnormal postures, often hunched over and stiffened, are characteristic of the disorder. People with SPS can be too disabled to walk or move, or they are afraid to leave the house because street noises, such as the sound of a horn, can trigger spasms and falls. SPS affects twice as many women as men. It is frequently associated with other autoimmune diseases such as diabetes, thyroiditis, vitiligo, and pernicious anemia. Scientists don?t yet understand what causes SPS, but research indicates that it is the result of an autoimmune response gone awry in the brain and spinal cord. The disorder is often misdiagnosed as Parkinson?s disease, multiple sclerosis, fibromyalgia, psychosomatic illness, or anxiety and phobia. A definitive diagnosis can be made with a blood test that measures the level of glutamic acid decarboxylase (GAD) antibodies in the blood. People with SPS have elevated levels of GAD, an antibody that works against an enzyme involved in the synthesis of an important neurotransmitter in the brain.
Wikipedia:69 Stiff person syndrome (SPS), also known as Stiff man syndrome (SMS), is a rare neurologic disorder of... more...
HPO human phenotypes related to Stiff-Person Syndrome:(show all 20)
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):
Interventional clinical trials:
Search NIH Clinical Center for Stiff-Person Syndrome
MalaCards organs/tissues related to Stiff-Person Syndrome:34
Thyroid, Spinal cord, Brain, Testes, Breast, Eye, T cells
MGI Mouse Phenotypes related to Stiff-Person Syndrome:39
Articles related to Stiff-Person Syndrome:(show top 50) (show all 248)
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 15)
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)
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet