MCID: STF001
MIFTS: 53

Stiff-Person Syndrome malady

Categories: Rare diseases, Neuronal diseases, Endocrine diseases

Aliases & Classifications for Stiff-Person Syndrome

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Aliases & Descriptions for Stiff-Person Syndrome:

Name: Stiff-Person Syndrome 10 46 12 36 65
Stiff Man Syndrome 10 45
Stiff-Man Syndrome 10 47
 
Morsch Woltman Syndrome 45
Stiff Person Syndrome 45
Sps 45

Classifications:



External Ids:

Disease Ontology10 DOID:13366
ICD1027 G25.82
ICD9CM29 333.91
SNOMED-CT59 5217008
MeSH36 D016750
NCIt42 C85170
UMLS65 C0085292

Summaries for Stiff-Person Syndrome

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NINDS:46 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.

MalaCards based summary: Stiff-Person Syndrome, also known as stiff man syndrome, is related to tinea profunda and stiff person syndrome and related disorders, and has symptoms including nuchal rigidity, anal sphincter atony and abnormal muscle tone. 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 Taurine and hypotaurine metabolism. Affiliated tissues include thyroid, brain and spinal cord, and related mouse phenotypes are respiratory system and normal.

Disease Ontology:10 A movement disease that is of unknown etiology characterized by progressive rigidity.

NIH Rare Diseases:45 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:68 Stiff person syndrome (SPS) is a rare neurologic disorder of unclear etiology characterized by... more...

Related Diseases for Stiff-Person Syndrome

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Diseases in the Stiff-Person Syndrome family:

Stiff Person Syndrome and Related Disorders

Diseases related to Stiff-Person Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 86)
idRelated DiseaseScoreTop Affiliating Genes
1tinea profunda27.1ABAT, AMPH, GABARAP, GAD1, GAD2, GLRA1
2stiff person syndrome and related disorders12.3
3classic stiff person syndrome12.2
4neonatal acute respiratory distress due to sp-b deficiency11.9
5interstitial lung disease due to sp-c deficiency11.9
6hyperekplexia11.5
7hyperekplexia, hereditary 1, autosomal dominant or recessive11.4
8focal stiff limb syndrome11.2
9small patella syndrome10.9
10thymoma10.3
11ataxia10.3
12cerebellar ataxia10.2
13breast cancer10.1
14lymphoma10.1
15thyroiditis10.1
16neuronitis10.1
17deafness, autosomal recessive 10110.1GLRA1, GPHN
18neonatal diabetes mellitus10.0GAD1, GAD2
19homocarnosinosis10.0ABAT, GAD1
20familial hemiplegic migraine10.0ABAT, GAD2
21celiac disease10.0
22myasthenia gravis10.0
23dermatitis10.0
24cerebellar disease10.0
25cerebritis10.0
26autoimmune thyroiditis10.0
27dermatitis herpetiformis10.0
28encephalitis10.0
29limbic encephalitis10.0
30myoclonus10.0
31spasticity10.0
32bipolar i disorder9.9GAD1, GAD2
33momo syndrome9.9GLRA1, GPHN
34paraneoplastic neurologic disorders9.9
35paraneoplastic syndromes9.9
36systemic lupus erythematosus9.8
37lung cancer9.8
38hodgkin lymphoma9.8
39renal cell carcinoma9.8
40multiple myeloma9.8
41pleuropulmonary blastoma9.8
42cerebral palsy9.8
43hepatitis9.8
44motor neuron disease9.8
45spastic cerebral palsy9.8
46sleep apnea9.8
47cutaneous t cell lymphoma9.8
48apraxia9.8
49blastoma9.8
50myeloma9.8

Graphical network of the top 20 diseases related to Stiff-Person Syndrome:



Diseases related to stiff-person syndrome

Symptoms for Stiff-Person Syndrome

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UMLS symptoms related to Stiff-Person Syndrome:


nuchal rigidity, anal sphincter atony, abnormal muscle tone, increased sweating, drop attack, hyperexplexia, opisthotonus, cogwheel rigidity, torticollis, muscle spasticity, muscle rigidity

Drugs & Therapeutics for Stiff-Person Syndrome

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Drugs for Stiff-Person Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
rituximabapprovedPhase 21582174722-31-710201696
Synonyms:
AntiCD20
IDEC-102
IDEC-C2B8
 
Ig gamma-1 chain C region
MabThera
Mabthera
Rituxan
rituximab
2AntibodiesPhase 2, Phase 14477
3Antibodies, MonoclonalPhase 22413
4Immunologic FactorsPhase 2, Phase 118483
5ImmunoglobulinsPhase 2, Phase 14477
6Antirheumatic AgentsPhase 28496
7Rho(D) Immune GlobulinPhase 1206
8Immunoglobulins, IntravenousPhase 1211
9
Glycineapproved, nutraceutical9456-40-6750
Synonyms:
(1-13c)glycinato
(15N)Glycine
15527_RIEDEL
15527_SIAL
15743-44-9 (mono-potassium salt)
17829-66-2 (cobalt salt)
18875-39-3
2,2-dialkylglycines
2-Aminoacetate
2-Aminoacetic acid
2311-65-1
25718-94-9
29728-27-6 (monoammonium salt)
32817-15-5 (copper salt)
33226_RIEDEL
33226_SIAL
33242-26-1 (calcium salt)
35947-07-0 (calcium salt (2:1))
410225_SIAL
50046_FLUKA
50046_SIGMA
513-29-1 (sulfate (3:1))
52955-63-2
56-40-6
57678-19-0
6000-43-7 (hydrochloride)
6000-44-8 (mono-hydrochloride salt)
63183-41-5 (hydrochloride hydrogen carbonate)
71295-98-2 (phosphate (1:1))
7490-95-1 (hydrochloride (2:1)
7490-95-1 (hydrochloride (2:1))
7575-55-5
848646-45-7
87867-94-5
AB-131/40217813
AB1002628
AC1L19XW
AC1Q28JW
AC1Q53O0
AI3-04085
AKOS000119626
AMINOACETIC ACID 1.5% IN PLASTIC CONTAINER
AR-1A0345
AR-1A0532
Acide aminoacetique
Acide aminoacetique [INN-French]
Acido aminoacetico
Acido aminoacetico [INN-Spanish]
Acidum aminoaceticum
Acidum aminoaceticum [INN-Latin]
Aciport
Amino-Acetate
Amino-Acetic acid
Aminoacetate
Aminoacetic acid
Aminoazijnzuur
Aminoessigsaeure
Aminoethanoate
Aminoethanoic acid
Amitone
B72BA06C-60E9-4A83-A24A-A2D7F465BB65
BPBio1_001222
Biomol-NT_000195
C00037
CCRIS 5915
CHEBI:15428
CHEBI:15705
CHEBI:16228
CHEMBL773
CID750
CPD-8569
Corilin
D00011
DB00145
EINECS 200-272-2
 
FEMA No. 3287
FT-0083159
G
G0099
G0317
G5417_SIGMA
G5523_SIGMA
G7126_SIGMA
G7403_SIGMA
G8790_SIGMA
G8898_SIGMA
GLY (IUPAC abbrev)
GLYCINE 1.5% IN PLASTIC CONTAINER
GLYCINE, ACS
Glicina
Glicina [INN-Spanish]
Glicoamin
Gly
Glycin
Glycine
Glycine (JP15/USP)
Glycine [INN]
Glycine iron sulphate (1:1)
Glycine, homopolymer (VAN)
Glycine, labeled with carbon-14
Glycine, non-medical
Glycine-UL-14C hydrochloride
Glycinum
Glycinum [INN-Latin]
Glycocoll
Glycolixir
Glycosthene
Glykokoll
Glyzin
Gyn-Hydralin
Gyn-hydralin
H-Gly-OH
H2N-CH2-COOH
HSDB 495
Hampshire glycine
Hgly
InChI=1/C2H5NO2/c3-1-2(4)5/h1,3H2,(H,4,5
KST-1A2919
KST-1A8102
L-Glycine
L-alpha-amino acids
L001246
LS-218
Leimzucker
MolPort-000-871-607
NCGC00024503-01
NCGC00024503-02
NChemBio.2007.13-comp1
NSC 25936
NSC25936
P8791_SIGMA
Padil
Polyglycine II
S04-0135
Sucre de gelatine
Tocris-0219
UNII-TE7660XO1C
W328707_ALDRICH
WLN: Z1VQ
aminoacetic acid
an alpha amino acid ester
bmse000089
gly
glycine
nchem.554-comp2
nchembio.121-comp9
nchembio.145-comp33
nchembio.198-comp12
nchembio.265-comp9
nchembio.266-comp30
polyglycine
10Autoantibodies117
11Neurotransmitter Agents14795
12Glutamic AcidNutraceutical201

Interventional clinical trials:

idNameStatusNCT IDPhase
1Rituximab to Treat Stiff Person SyndromeCompletedNCT00091897Phase 2
2Stem Cell Transplantation for Stiff Person Syndrome (SPS)RecruitingNCT02282514Phase 1, Phase 2
3Intravenous Immunoglobulin (IVIg) for the Treatment of Stiff-Man Syndrome (SMS)CompletedNCT00001550Phase 1
4Cause, Development, and Progression of Stiff-Person SyndromeCompletedNCT00030940
5Effects of Mutations of the Glycine Gene Associated With Hyperekplexia on Central Pain ProcessingTerminatedNCT01476514

Search NIH Clinical Center for Stiff-Person Syndrome


Cochrane evidence based reviews: stiff-person syndrome

Genetic Tests for Stiff-Person Syndrome

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Anatomical Context for Stiff-Person Syndrome

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MalaCards organs/tissues related to Stiff-Person Syndrome:

33
Thyroid, Brain, Spinal cord, Testes, Lung, Heart, Breast

Animal Models for Stiff-Person Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Stiff-Person Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.6GAD1, GAD2, GLRA1, GPHN, TH
2MP:00028738.5GABARAP, GAD1, GAD2, GPHN, TH
3MP:00053797.8AMPH, GAD1, GAD2, GLRA1, GLRB, TH
4MP:00053867.1AMPH, GAD1, GAD2, GLRA1, GLRB, GPHN
5MP:00107687.1AMPH, GAD1, GAD2, GLRA1, GLRB, GPHN
6MP:00036317.0AMPH, GAD1, GAD2, GLRA1, GLRB, GPHN

Publications for Stiff-Person Syndrome

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Articles related to Stiff-Person Syndrome:

(show top 50)    (show all 241)
idTitleAuthorsYear
1
Focal gradual-onset variant of stiff-person syndrome. (25636820)
2015
2
Role of osteopathic manipulative treatment in the management of stiff person syndrome. (26024334)
2015
3
Therapeutic plasma exchange in two patients with stiff-person syndrome. (26407506)
2015
4
Stiff person syndrome: a tough and rigid case. (26040059)
2015
5
Stiff-person syndrome with central sleep apnea after thymoma excision: report of the first known case. (26238984)
2015
6
Latent autoimmune diabetes in Stiff-Person Syndrome. (25249677)
2014
7
The horses are the first thought but one must not forget the zebras even if they are rare: Stiff person syndrome associated with malignant mesothelioma. (24711475)
2014
8
LADA type diabetes, celiac diasease, cerebellar ataxia and stiff person syndrome. A rare association of autoimmune disorders. (25087381)
2014
9
Reducing excess stiffness in Stiff Person Syndrome using CBT: A case study. (25238861)
2014
10
Stiff person syndrome: a case report. (25095302)
2014
11
A case of childhood stiff-person syndrome with striatal lesions: a possible entity distinct from the classical adult form. (22944247)
2013
12
Extremely rare coincidence of non-radiographic axial spondyloarthropathy HLA-B27 positive and Stiff Person Syndrome - rheumatologist point of view. (24289195)
2013
13
Treatment of stiff-person syndrome with chronic plasmapheresis. (23239368)
2013
14
Stiff Person syndrome and other anti-GAD-associated neurologic disorders. (23677666)
2012
15
Physical therapist management of stiff person syndrome in a 24-year-old woman. (21737522)
2011
16
The occurrence of stiff person syndrome in a patient with thymoma: case report and literature review. (20509396)
2010
17
Urodynamic study alterations in a patient with stiff person syndrome. (20438592)
2010
18
Successful 'passive transfer' of paraneoplastic stiff person syndrome with antibodies to an intracellular antigen. (21030432)
2010
19
Long-lived plasma cells and memory B cells produce pathogenic anti-GAD65 autoantibodies in Stiff Person Syndrome. (20520773)
2010
20
A critical update on the immunopathogenesis of Stiff Person Syndrome. (20636380)
2010
21
Effects of immunotherapy on motor cortex excitability in Stiff Person Syndrome. (19820984)
2010
22
Stiff person syndrome presenting with sudden onset of shortness of breath and difficulty moving the right arm: a case report. (20423476)
2010
23
Stiff person syndrome associated with lower motor neuron disease and infiltration of cytotoxic T cells in the spinal cord. (19616370)
2009
24
Stiff-person syndrome with amphiphysin antibodies: distinctive features of a rare disease. (18971449)
2008
25
Stiff eyes in stiff-person syndrome. (18663186)
2008
26
GAD65 IgG autoantibodies in stiff person syndrome: clonality, avidity and persistence. (18637036)
2008
27
Levetiracetam in stiff-person syndrome. (18769864)
2008
28
Successful intrathecal baclofen therapy for seronegative stiff-person syndrome: a case report. (18975523)
2008
29
GAD antibody positive paraneoplastic stiff person syndrome in a patient with renal cell carcinoma. (17486640)
2007
30
Stiff-person syndrome. (17445501)
2007
31
Stiff person syndrome with cerebellar disease and high-titer anti-GAD antibodies. (17404205)
2007
32
Scleritis in a person with stiff-person syndrome. (17365806)
2007
33
A rare saccade velocity profile in Stiff-Person Syndrome with cerebellar degeneration. (16725126)
2006
34
Physical therapy during in-patient rehabilitation for a patient with Stiff-Person Syndrome. (16630369)
2006
35
Eye movement abnormalities in stiff person syndrome. (16275836)
2005
36
Stiff-person syndrome. (15140273)
2004
37
Stiff person syndrome does not always occur with maternal passive transfer of GAD65 antibodies. (15184624)
2004
38
Humoral and cellular autoimmune responses in stiff person syndrome. (14592879)
2003
39
Progressive encephalomyelitis with rigidity presenting as a stiff-person syndrome. (12039424)
2002
40
Stiff person syndrome and myasthenia gravis. (11960163)
2002
41
The stiff-person syndrome. Case report. (12538969)
2002
42
Anaesthetic management of a patient with Stiff-person syndrome. (11966568)
2002
43
Atypical low back pain: stiff-person syndrome. (12027316)
2002
44
Improvement of stiff-person syndrome with tiagabine. (11468338)
2001
45
Stiff-person syndrome: autoimmunity and the central nervous system. (15999029)
2001
46
Motor cortex excitability in stiff-person syndrome. (11050023)
2000
47
The stiff-person syndrome: an autoimmune disorder affecting neurotransmission of gamma-aminobutyric acid. (10507962)
1999
48
Atypical stiff-person syndrome with spinal MRI findings, amphiphysin autoantibodies, and immunosuppression. (9674811)
1998
49
50

Variations for Stiff-Person Syndrome

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Expression for genes affiliated with Stiff-Person Syndrome

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Search GEO for disease gene expression data for Stiff-Person Syndrome.

Pathways for genes affiliated with Stiff-Person Syndrome

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Pathways related to Stiff-Person Syndrome according to GeneCards Suite gene sharing:

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
19.8GAD1, GAD2
29.8GAD1, GAD2
3
Show member pathways
9.4AMPH, TH
4
Show member pathways
9.3ABAT, GAD1, GAD2
5
Show member pathways
9.3ABAT, GAD1, GAD2
6
Show member pathways
9.3ABAT, GAD1, GAD2
79.3ABAT, GAD1, GAD2
8
Show member pathways
9.3ABAT, GAD1, GAD2
9
Show member pathways
9.3ABAT, GAD1, GAD2
10
Show member pathways
9.3GLRA1, GLRB
11
Show member pathways
9.2GAD1, GAD2, TH
129.2GAD1, GAD2, TH
13
Show member pathways
7.7ABAT, GABARAP, GAD1, GAD2, GPHN, TH

GO Terms for genes affiliated with Stiff-Person Syndrome

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Cellular components related to Stiff-Person Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1clathrin-sculpted gamma-aminobutyric acid transport vesicle membraneGO:006120210.1GAD1, GAD2
2synaptic vesicle membraneGO:00306729.9AMPH, GAD2
3dendriteGO:00304258.2GLRA1, GLRB, GPHN, TH

Biological processes related to Stiff-Person Syndrome according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1neurotransmitter biosynthetic processGO:00421369.9GAD1, TH
2synaptic transmission, glycinergicGO:00600129.9GLRA1, GLRB
3righting reflexGO:00600139.8GLRA1, GLRB
4neurotransmitter secretionGO:00072699.8ABAT, GAD1
5startle responseGO:00019649.6GLRA1, GLRB
6neuropeptide signaling pathwayGO:00072189.6GLRA1, GLRB
7adult walking behaviorGO:00076289.6GLRA1, GLRB
8response to amino acidGO:00432009.5GLRA1, GLRB
9protein heterooligomerizationGO:00512919.2GLRA1, GLRB
10synaptic transmissionGO:00072688.2ABAT, GABARAP, GLRA1, GLRB

Molecular functions related to Stiff-Person Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glycine bindingGO:00165949.6GLRA1, GLRB
2extracellular ligand-gated ion channel activityGO:00052309.3GLRA1, GLRB

Sources for Stiff-Person Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet