Stiff-person syndrome

Preferred Label : Stiff-person syndrome;

Symbol : SPS;

CISMeF acronym : PER; PERM; SPS;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Stiff-man syndrome; Stiff-trunk syndrome;

Included titles and symbols : Progressive encephalomyelitis with rigidity; PERM; PER;

Description : The stiff-person syndrome (SPS) is most often an adult-onset sporadic acquired disorder characterized by progressive muscle stiffness with superimposed painful muscle spasms accompanied by electromyographic evidence of continuous motor activity at rest. SPS has been associated with autoimmune disorders, diabetes mellitus, thyrotoxicosis, and hypopituitarism with adrenal insufficiency (George et al., 1984). Approximately 60% of patients with SPS have antibodies to glutamic acid decarboxylase (GAD2, or GAD65; 138275), the rate-limiting enzyme in the synthesis of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA), suggesting an immune-mediated pathogenesis (Folli et al., 1993). Approximately 10% of patients develop SPS as a paraneoplastic neurologic disorder associated with antibodies to amphiphysin (AMPH; 600418), an intracellular protein associated with neuronal synaptic vesicle endocytosis (Burns, 2005). See also congenital stiff-man syndrome, or hereditary hyperexplexia (149400), which is caused by mutations in subunits of the glycine receptor gene (GLRA1, 138491; GLRB, 138492). Meinck and Thompson (2002) provided a detailed review of stiff-person syndrome. They also discussed 2 possibly related conditions, progressive encephalomyelitis with rigidity (PERM), a more severe disorder with other neurologic features, and stiff-limb or stiff-leg syndrome, a focal disorder.;

Inheritance : Isolated cases;

Neoplasia : Approximately 10% of cases are paraneoplastic; Paraneoplastic SPS is associated with breast cancer and other malignancies; Paraneoplastic SPS is associated with autoantibodies to amphiphysin (AMPH, 600418);

Prefixed ID : %184850;

Details

Origin ID

184850;

UMLS CUI

C0085292;

Automatic exact mappings (from CISMeF team)
- Coxopodopatellar syndrome [ORDO Disease]
- Follow [NCIt concept]
- PER (body structure) [SNOMED CT concept]
- PER1 wt Allele [NCIt concept]
- Per [NCIt concept]
- Per - dosing instruction fragment (qualifier value) [SNOMED CT concept]
- Permeative (qualifier value) [SNOMED CT concept]
- Peru [NCIt concept]
- Progressive encephalomyelitis with rigidity and myoclonus [ORDO Disease]
- Status post (contextual qualifier) (qualifier value) [SNOMED CT concept]
- TBX4 wt Allele [NCIt concept]
- endoscopy of pancreas, nos [SNOMED Notion]
- ischiocoxopodopatellar syndrome [DO Concept]
- periodicals [CISMeF resources Type]
- periodicals as topic [MeSH Descriptor]
- progressive encephalomyelitis with rigidity [MeSH Supplementary Concept]
- progressive encephalomyelitis with rigidity [MeSH concept]
- selenophosphate synthetase 1 [HGNC gene]
- spermine synthase [ORDO Gene]
- sucrose-phosphate synthase activity [GO term]
Currated CISMeF NLP mapping
- Stiff Person Syndrome [NCIt concept]
- Stiff man syndrome [PASCAL descriptor]
- Stiff person spectrum disorder [ORDO Disease]
- Stiff person spectrum disorder (disorder) [SNOMED CT concept]
- Stiff person syndrome [ICD-11 More detail]
- Stiff person syndrome [MedDRA Preferred Term]
- Stiff-Person syndrome [DO Concept]
- Stiff-Person syndrome [MeSH Descriptor]
- Stiff-Person syndrome [MeSH concept]
- Stiff-man syndrome [ICD-9 code]
- Stiff-man syndrome [MedDRA LLT]
- stiff man syndrome [Disease (Nov.)]
- stiff-man syndrome [SNOMED Notion]
DO Cross reference
- Stiff-Person syndrome [DO Concept]
False automatic mappings
- Spain [NCIt concept]
HPO term(s)
- Adult onset [HPO term]
- Agoraphobia [HPO term]
- Anemia [HPO term]
- Anxiety [HPO term]
- Asymmetric limb muscle stiffness [HPO term]
- Autoimmunity [HPO term]
- Axial muscle stiffness [HPO term]
- Depression [HPO term]
- Diabetes mellitus [HPO term]
- Diaphoresis [HPO term]
- Exaggerated startle response [HPO term]
- Fever [HPO term]
- Frequent falls [HPO term]
- Hyperhidrosis [HPO term]
- Hyperreflexia [HPO term]
- Hypertension [HPO term]
- Isolated cases [HPO term]
- Lumbar hyperlordosis [HPO term]
- Myoclonic spasms [HPO term]
- Opisthotonus [HPO term]
- Proximal limb muscle stiffness [HPO term]
- Rigidity [HPO term]
- Sporadic [HPO term]
- Superimposed episodic, painful, severe myoclonic spasms [HPO term]
- Tachycardia [HPO term]
- Vitiligo [HPO term]
ORDO concept(s)
- Classic stiff person syndrome [ORDO Disease]
- Focal stiff limb syndrome [ORDO Disease]
- Progressive encephalomyelitis with rigidity and myoclonus [ORDO Disease]
- Stiff person spectrum disorder [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Moersch-Woltman syndrome [MedDRA LLT]
- Stiff Person Syndrome [NCIt concept]
- Stiff man syndrome [PASCAL descriptor]
- Stiff person spectrum disorder [ORDO Disease]
- Stiff person spectrum disorder (disorder) [SNOMED CT concept]
- Stiff person syndrome [MedDRA Preferred Term]
- Stiff-Person syndrome [MeSH Descriptor]
- Stiff-Person syndrome [MeSH concept]
- Stiff-Person syndrome [DO Concept]
- Stiff-man syndrome [MedDRA LLT]
- Stiff-man syndrome [ICD-9 code]
- stiff man syndrome [Disease (Nov.)]
- stiff-man syndrome [SNOMED Notion]

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