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Stiff-man syndrome

disorder
SNOMED 5217008CUI C0085292

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Stiff-Person Syndrome" from the MEDLINE/PubMed database.

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Pediatric stiff-person syndrome and related disorders: A systematic review.
[object Object], [object Object], [object Object] et al. · Neurol Sci · 2025
PMID: 40826302Meta-Analysis
Systematic Review of Immune and Symptomatic Treatments for Stiff-Person Syndrome.
[object Object], [object Object], [object Object] · Eur J Neurol · 2025
PMID: 41273190Meta-AnalysisFull text (PMC)
Rituximab in stiff-person syndrome with glutamic acid decarboxylase 65 autoantibody: a systematic review.
[object Object], [object Object], [object Object] et al. · J Neurol · 2025
PMID: 40413341Meta-AnalysisFull text (PMC)
Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes.
[object Object], [object Object], [object Object] et al. · Pediatr Neurol · 2022
PMID: 35636282Meta-Analysis
Efficacy of therapeutic plasma exchange for treatment of stiff-person syndrome.
[object Object], [object Object], [object Object] et al. · Transfusion · 2014
PMID: 24527774Meta-Analysis
Childhood onset of stiff-man syndrome.
[object Object], [object Object], [object Object] et al. · JAMA Neurol · 2013
PMID: 24100349Meta-AnalysisFull text (PMC)
A double-blind, placebo-controlled study of rituximab in patients with stiff person syndrome.
[object Object], [object Object], [object Object] et al. · Ann Neurol · 2017
PMID: 28749549RCTFull text (PMC)
Stiff-person syndrome.
[object Object], [object Object] · Pract Neurol · 2025
PMID: 39222980Review
Search all PubMed articles for Stiff-man syndrome

Research data from MEDLINE/PubMed

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal electromyography finding
Very frequent (80-99%)HP:0003457
Excessive, persistent worry and fear
Very frequent (80-99%)HP:0000739
Falls
Very frequent (80-99%)HP:0002527
Hyperhidrosis
Very frequent (80-99%)HP:0000975
Intermittent painful muscle spasms
Very frequent (80-99%)HP:0011964
Agoraphobia
Frequent (30-79%)HP:0000756
Anti-Amphiphysin antibody
Frequent (30-79%)HP:5000002
Anti-dipeptidyl-peptidase-like protein 6 antibody
Frequent (30-79%)HP:5000007
Anti-GAD65 antibody
Frequent (30-79%)HP:5000011
Anti-Gephyrin antibody
Frequent (30-79%)HP:5000012
Anti-glycine receptor antibody
Frequent (30-79%)HP:5000014
Autoimmune antibody positivity
Frequent (30-79%)HP:0030057
Constipation
Frequent (30-79%)HP:0002019
Deglutition disorder
Frequent (30-79%)HP:0002015
Emotional lability
Frequent (30-79%)HP:0000712
Gait disturbance
Frequent (30-79%)HP:0001288
Increased reflexes
Frequent (30-79%)HP:0001347
Increased startle response
Frequent (30-79%)HP:0002267
Intellectual impairment
Frequent (30-79%)HP:0100543
Jerking
Frequent (30-79%)HP:0001336
Muscle pain
Frequent (30-79%)HP:0003326
Muscle rigidity
Frequent (30-79%)HP:0002063
Paraspinal muscle hypertrophy
Frequent (30-79%)HP:0012894
Apnea
Occasional (5-29%)HP:0002104
Diabetes mellitus
Occasional (5-29%)HP:0000819
Dizziness
Occasional (5-29%)HP:0002321
Double vision
Occasional (5-29%)HP:0000651
Freezing gait
Occasional (5-29%)HP:0031825
Hypothyroidism
Occasional (5-29%)HP:0000821
Increased lumbar lordosis
Occasional (5-29%)HP:0002938

Quick Facts

SNOMED CT
5217008
UMLS CUI
C0085292
Fully Specified Name
Stiff person spectrum disorder (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.