SMS
MCID: STF001
MIFTS: 56

Stiff-Person Syndrome (SMS) malady

Categories: Rare diseases, Neuronal diseases, Endocrine diseases

Aliases & Classifications for Stiff-Person Syndrome

Aliases & Descriptions for Stiff-Person Syndrome:

Name: Stiff-Person Syndrome 54 12 51 42 14 69
Stiff Man Syndrome 12 50 56
Stiff Person Syndrome and Related Disorders 50 56
Moersch-Woltman Syndrome 50 56
Stiff-Man Syndrome 12 52
Sms 50 56
Sps 50 56
Progressive Encephalomyelitis with Rigidity and Myoclonus 56
Progressive Encephalomyelitis with Rigidity 69
Classic Stiff Person Syndrome 56
Focal Stiff-Person Syndrome 56
Focal Stiff Limb Syndrome 56
Morsch Woltman Syndrome 50
Stiff Person Syndrome 50
Stiff Leg Syndrome 56
Classic Sps 56
Perm 56

Characteristics:

Orphanet epidemiological data:

56
stiff person syndrome and related disorders
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 limb syndrome
Inheritance: Not applicable;

HPO:

32
stiff-person syndrome:
Inheritance sporadic
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM 54 184850
Disease Ontology 12 DOID:13366
ICD10 33 G25.82
ICD9CM 35 333.91
MeSH 42 D016750
NCIt 47 C85170
SNOMED-CT 64 5217008
ICD10 via Orphanet 34 G25.8 G04.8
UMLS via Orphanet 70 C0085292
UMLS 69 C0085292

Summaries for Stiff-Person Syndrome

OMIM : 54 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 breast cancer and progressive encephalomyelitis with rigidity and myoclonus, and has symptoms including emotional lability, diabetes mellitus and hypothyroidism. An important gene associated with Stiff-Person Syndrome is GAD2 (Glutamate Decarboxylase 2), and among its related pathways/superpathways are GABAergic synapse and Neuroscience. The drugs rituximab and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include thyroid, brain and spinal cord, and related phenotypes are behavior/neurological and mortality/aging

NIH Rare Diseases : 50 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 : 51 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.

Disease Ontology : 12 A movement disease that is of unknown etiology characterized by progressive rigidity.

Wikipedia : 71 Stiff person syndrome (SPS), also known as stiff man syndrome (SMS), is a rare neurologic disorder of... more...

Related Diseases for Stiff-Person Syndrome

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

(show top 50) (show all 108)
id Related Disease Score Top Affiliating Genes
1 breast cancer 29.9 GAD2 INS
2 progressive encephalomyelitis with rigidity and myoclonus 12.5
3 sm-ahnmd 12.0
4 mental retardation, x-linked, snyder-robinson type 11.7
5 smith-magenis syndrome 11.7
6 systemic mastocytosis 11.4
7 hyperekplexia 11.4
8 hyperekplexia, hereditary 1, autosomal dominant or recessive 11.3
9 hyperekplexia 1 11.1
10 corneal dystrophy, congenital stromal 11.0
11 extratemporal epilepsy 11.0
12 hand dermatosis 11.0
13 potocki-lupski syndrome 10.8
14 steatocystoma multiplex 10.8
15 singleton merten syndrome 10.8
16 small patella syndrome 10.8
17 surfactant metabolism dysfunction, pulmonary, 1 10.8
18 surfactant metabolism dysfunction, pulmonary, 2 10.8
19 paraneoplastic neurologic disorders 10.8
20 paraneoplastic syndromes 10.8
21 farmer's lung 10.8
22 tularemia 10.8
23 ventilation pneumonitis 10.8
24 aneruptive fever 10.8
25 absence of septum pellucidum 10.8
26 myxozoa 10.4
27 thymoma 10.2
28 ataxia 10.2
29 inhalation anthrax 10.2 GLRA1 GLRB
30 cerebellar ataxia 10.1
31 deafness, autosomal recessive 29 10.1 GAD1 GAD2
32 mastocytosis 10.1
33 mixed cerebral palsy 10.1 GAD1 GAD2
34 acromegaly 10.1
35 morse-rawnsley-sargent syndrome 10.0 GLRA1 GPHN
36 lipedematous scalp 10.0 AMPH GAD1 GAD2
37 lymphoproliferative syndrome 1 10.0 GLRA1 GLRB GPHN
38 thyroiditis 10.0
39 neuronitis 10.0
40 lymphoma 10.0
41 pneumonia 9.9
42 lymphoproliferative syndrome 9.9 GLRA1 GLRB GPHN
43 chudley-mccullough syndrome 9.9 GAD1 INS
44 phaeohyphomycosis 9.9 GAD1 GAD2
45 cerebritis 9.9
46 limbic encephalitis 9.9
47 respiratory failure 9.9
48 dermatitis herpetiformis 9.9
49 myasthenia gravis 9.9
50 dermatitis 9.9

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



Diseases related to Stiff-Person Syndrome

Symptoms & Phenotypes for Stiff-Person Syndrome

Symptoms by clinical synopsis from OMIM:

184850

Clinical features from OMIM:

184850

Human phenotypes related to Stiff-Person Syndrome:

56 32 (show all 30)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 emotional lability 56 32 Frequent (79-30%) HP:0000712
2 diabetes mellitus 56 32 Occasional (29-5%) HP:0000819
3 hypothyroidism 56 32 Occasional (29-5%) HP:0000821
4 hyperhidrosis 56 32 Very frequent (99-80%) HP:0000975
5 emg abnormality 56 32 Very frequent (99-80%) HP:0003457
6 anxiety 56 32 Very frequent (99-80%) HP:0000739
7 falls 56 32 Very frequent (99-80%) HP:0002527
8 rigidity 56 32 Frequent (79-30%) HP:0002063
9 difficulty walking 56 32 Frequent (79-30%) HP:0002355
10 autoimmune antibody positivity 56 32 Frequent (79-30%) HP:0030057
11 intermittent painful muscle spasms 56 32 Very frequent (99-80%) HP:0011964
12 agoraphobia 56 32 Frequent (79-30%) HP:0000756
13 exaggerated startle response 56 32 Frequent (79-30%) HP:0002267
14 paraspinal muscle hypertrophy 56 32 Frequent (79-30%) HP:0012894
15 lumbar hyperlordosis 56 32 Occasional (29-5%) HP:0002938
16 fever 32 HP:0001945
17 opisthotonus 32 HP:0002179
18 depression 32 HP:0000716
19 hypertension 32 HP:0000822
20 hyperreflexia 32 HP:0001347
21 anemia 32 HP:0001903
22 vitiligo 32 HP:0001045
23 autoimmunity 32 HP:0002960
24 abnormality of the nervous system 56 Excluded (0%)
25 tachycardia 32 HP:0001649
26 myoclonic spasms 32 HP:0003739
27 frequent falls 32 HP:0002359
28 axial muscle stiffness 32 HP:0006921
29 proximal limb muscle stiffness 32 HP:0007066
30 asymmetric limb muscle stiffness 32 HP:0007156

UMLS symptoms related to Stiff-Person Syndrome:


fever, muscle rigidity, opisthotonus, hyperexplexia, increased sweating

MGI Mouse Phenotypes related to Stiff-Person Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.01 INS TH AMPH GAD1 GAD2 GLRA1
2 mortality/aging MP:0010768 9.92 INS TH AMPH GAD1 GAD2 GLRA1
3 endocrine/exocrine gland MP:0005379 9.91 AMPH GAD1 GAD2 GLRA1 GLRB INS
4 nervous system MP:0003631 9.86 AMPH GAD1 GAD2 GLRA1 GLRB GPHN
5 no phenotypic analysis MP:0003012 9.55 GAD1 GAD2 GLRA1 INS TH
6 normal MP:0002873 9.43 GABARAP GAD1 GAD2 GPHN INS TH
7 respiratory system MP:0005388 9.02 GAD1 GAD2 GLRA1 GPHN TH

Drugs & Therapeutics for Stiff-Person Syndrome

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

(show all 12)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
rituximab Approved Phase 2 174722-31-7 10201696
2 Antibodies Phase 2,Phase 1
3 Antibodies, Monoclonal Phase 2
4 Antirheumatic Agents Phase 2
5 Immunoglobulins Phase 2,Phase 1
6 gamma-Globulins Phase 1
7 Immunoglobulins, Intravenous Phase 1
8 Rho(D) Immune Globulin Phase 1
9
Glycine Approved, Nutraceutical, Vet_approved 56-40-6 750
10 Autoantibodies
11 Neurotransmitter Agents
12 Glutamic Acid Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Rituximab to Treat Stiff Person Syndrome Completed NCT00091897 Phase 2
2 Stem Cell Transplantation for Stiff Person Syndrome (SPS) Recruiting NCT02282514 Phase 1, Phase 2
3 Intravenous Immunoglobulin (IVIg) for the Treatment of Stiff-Man Syndrome (SMS) Completed NCT00001550 Phase 1
4 Cause, Development, and Progression of Stiff-Person Syndrome Completed NCT00030940
5 Effects of Mutations of the Glycine Gene Associated With Hyperekplexia on Central Pain Processing Terminated NCT01476514

Search NIH Clinical Center for Stiff-Person Syndrome

Cochrane evidence based reviews: stiff-person syndrome

Genetic Tests for Stiff-Person Syndrome

Anatomical Context for Stiff-Person Syndrome

MalaCards organs/tissues related to Stiff-Person Syndrome:

39
Thyroid, Brain, Spinal Cord, Testes, Eye, Breast, T Cells

Publications for Stiff-Person Syndrome

Articles related to Stiff-Person Syndrome:

(show top 50) (show all 262)
id Title Authors Year
1
Stiff person syndrome masquerading as multiple sclerosis. ( 28017232 )
2017
2
Central Sleep Apnea and Stiff Person Syndrome: A Case Report. ( 28358591 )
2017
3
Erratum: Serotonin-norepinephrine reuptake inhibitors may exacerbate stiff-person syndrome. ( 27761484 )
2016
4
Stiff person syndrome and other immune-mediated movement disorders - new insights. ( 27262149 )
2016
5
Utility of ultrasonography in evaluating muscle contractions in stiff-person syndrome. ( 27423620 )
2016
6
Long-term efficacy of pregabalin in stiff person syndrome. ( 27527522 )
2016
7
Rhabdomyolysis and Autoimmune Variant Stiff-Person Syndrome. ( 28028432 )
2016
8
Lockjaw in stiff-person syndrome with autoantibodies against glycine receptors. ( 26767190 )
2016
9
Stiff person syndrome in South Asia. ( 27756410 )
2016
10
Anesthetic management of a parturient with Stiff person syndrome for urgent cesarean delivery. ( 27378710 )
2016
11
Poster 360 Acute Rehabilitation of a Patient with Stiff Person Syndrome (SPS) and GAD-Antibody Cerebellar Ataxia: A Case Report. ( 27673113 )
2016
12
Pediatric stiff-person syndrome with renal failure. ( 26933366 )
2016
13
Poster 258 A Novel Approach to the Treatment of Stiff-Person-Syndrome with Botulinum Toxin: A Case Report. ( 27673015 )
2016
14
A case report of patient with cerebellar variant of stiff person syndrome. ( 26851693 )
2016
15
Anesthesia in a patient with Stiff Person Syndrome. ( 27591471 )
2016
16
Multiple anesthetics for a patient with stiff-person syndrome. ( 27185709 )
2016
17
Acute Respiratory Failure in a Patient with Stiff-Person Syndrome. ( 27430873 )
2016
18
Poster 237 Bilateral Hip Fracture During Hospitalization for Spasm Exacerbation in an Adult with Stiff Person Syndrome: A Case Report. ( 27672995 )
2016
19
Amphiphysin-positive paraneoplastic myelitis and stiff-person syndrome. ( 27734022 )
2016
20
Serotonin-norepinephrine reuptake inhibitors may exacerbate stiff-person syndrome. ( 27606356 )
2016
21
Stiff Person Syndrome with Pyramidal Signs. ( 28360797 )
2016
22
A unique combination of autoimmune limbic encephalitis, type 1 diabetes, and Stiff person syndrome associated with GAD-65 antibody. ( 27011652 )
2016
23
Ophthalmoplegia heralding the onset of anti-amphiphysin related paraneoplastic stiff person syndrome. ( 26946498 )
2016
24
Clinical Spectrum of Stiff Person Syndrome: A Review of Recent Reports. ( 26989571 )
2016
25
Stiff Person Syndrome Masquerading as Acute Coronary Syndrome. ( 27692358 )
2016
26
Stiff-Person Syndrome and Graves' Disease: A Pediatric Case Report. ( 28503622 )
2016
27
Anesthetic Considerations of Stiff-Person Syndrome: A Case Report. ( 27501653 )
2016
28
Presynaptic neuromuscular transmission defect in the stiff person syndrome. ( 27905901 )
2016
29
Paraneoplastic stiff person syndrome: Inpatient rehabilitation outcomes of a rare disease from two cancer rehabilitation programmes. ( 27157044 )
2016
30
Gastrointestinal and Urologic Sphincter Dysfunction in Stiff Person Syndrome. ( 27861223 )
2016
31
Familial case reports of stiff-person syndrome. ( 25912339 )
2015
32
A Case of Stiff Person Syndrome: Immunomodulatory Effect of Benzodiazepines: Successful Rituximab and Tizanidine Therapy. ( 26061327 )
2015
33
Stiff Person Syndrome. ( 27604442 )
2015
34
What's stiff-person syndrome? ( 26287715 )
2015
35
Stiff-person syndrome with central sleep apnea after thymoma excision: report of the first known case. ( 26238984 )
2015
36
Pearls & Oy-sters: Tonic eye deviation in stiff-person syndrome. ( 25917489 )
2015
37
A Report of Stiff Person Syndrome in Tanzania with First Epidemiological Figures for Sub-Saharan Africa. ( 26316197 )
2015
38
Elevated Serum GAD65 and GAD65-GADA Immune Complexes in Stiff Person Syndrome. ( 26080009 )
2015
39
Role of osteopathic manipulative treatment in the management of stiff person syndrome. ( 26024334 )
2015
40
Botulinum toxin a injection to facial and cervical paraspinal muscles in a patient with stiff person syndrome: a case report. ( 25459656 )
2015
41
Stiff person syndrome: a tough and rigid case. ( 26040059 )
2015
42
A Rare Case of Childhood Stiff Person Syndrome Associated With Pleuropulmonary Blastoma. ( 26344328 )
2015
43
Are patients with truncal type of Stiff Person Syndrome hidden in a heterogenous group of non-radiographic axial spondyloarthritis? ( 26005769 )
2015
44
Recent Advances and Review on Treatment of Stiff Person Syndrome in Adults and Pediatric Patients. ( 26848416 )
2015
45
Therapeutic plasma exchange in two patients with stiff-person syndrome. ( 26407506 )
2015
46
Focal gradual-onset variant of stiff-person syndrome. ( 25636820 )
2015
47
Stiff Person Syndrome: A Rare Neurological Disorder, Heterogeneous in Clinical Presentation and Not Easy to Treat. ( 26106494 )
2015
48
Stiff person-syndrome IgG affects presynaptic GABAergic release mechanisms. ( 24990310 )
2014
49
Reducing excess stiffness in Stiff Person Syndrome using CBT: A case study. ( 25238861 )
2014
50
Efficacy of therapeutic plasma exchange for treatment of stiff-person syndrome. ( 24527774 )
2014

Variations for Stiff-Person Syndrome

Expression for Stiff-Person Syndrome

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

Pathways for Stiff-Person Syndrome

GO Terms for Stiff-Person Syndrome

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.71 AMPH GABARAP GAD2 TH
2 cell junction GO:0030054 9.65 AMPH GAD2 GLRA1 GLRB GPHN
3 axon GO:0030424 9.63 GAD1 GAD2 TH
4 dendrite GO:0030425 9.62 GLRA1 GLRB GPHN TH
5 postsynaptic membrane GO:0045211 9.61 GLRA1 GLRB GPHN
6 synaptic vesicle membrane GO:0030672 9.49 AMPH GAD2
7 chloride channel complex GO:0034707 9.48 GLRA1 GLRB
8 smooth endoplasmic reticulum GO:0005790 9.37 GABARAP TH
9 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane GO:0061202 9.16 GAD1 GAD2
10 inhibitory synapse GO:0060077 9.13 GAD1 GAD2 GLRA1
11 synapse GO:0045202 9.1 AMPH GAD1 GAD2 GLRA1 GLRB GPHN

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.73 GAD1 GAD2 TH
2 visual perception GO:0007601 9.69 GLRA1 GLRB TH
3 neurotransmitter secretion GO:0007269 9.55 GAD1 GAD2
4 social behavior GO:0035176 9.54 GAD1 TH
5 adult walking behavior GO:0007628 9.52 GLRA1 GLRB
6 neuromuscular process GO:0050905 9.49 GLRA1 GLRB
7 response to metal ion GO:0010038 9.48 GPHN TH
8 carboxylic acid metabolic process GO:0019752 9.46 GAD1 GAD2
9 acrosome reaction GO:0007340 9.43 GLRA1 GLRB
10 startle response GO:0001964 9.4 GLRA1 GLRB
11 righting reflex GO:0060013 9.37 GLRA1 GLRB
12 synaptic transmission, glycinergic GO:0060012 9.32 GLRA1 GLRB
13 gamma-aminobutyric acid receptor clustering GO:0097112 9.26 GLRB GPHN
14 glutamate decarboxylation to succinate GO:0006540 9.16 GAD1 GAD2
15 neurotransmitter biosynthetic process GO:0042136 9.13 GAD1 GAD2 TH
16 chemical synaptic transmission GO:0007268 9.1 AMPH GABARAP GAD1 GAD2 GLRA1 GLRB

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

id Name GO ID Score Top Affiliating Genes
1 pyridoxal phosphate binding GO:0030170 9.43 GAD1 GAD2
2 extracellular ligand-gated ion channel activity GO:0005230 9.4 GLRA1 GLRB
3 carboxy-lyase activity GO:0016831 9.37 GAD1 GAD2
4 glycine binding GO:0016594 9.32 GLRA1 GLRB
5 glutamate binding GO:0016595 9.26 GAD1 GAD2
6 extracellular-glycine-gated chloride channel activity GO:0016934 9.16 GLRA1 GLRB
7 glutamate decarboxylase activity GO:0004351 8.96 GAD1 GAD2
8 extracellular-glycine-gated ion channel activity GO:0016933 8.62 GLRA1 GLRB
9 protein binding GO:0005515 10.11 AMPH GABARAP GAD1 GAD2 GLRA1 GLRB

Sources for Stiff-Person Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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