stiff-person syndrome
MONDO:0008491Mondo
Findings
No curated finding names stiff-person syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis.
Definition from the Mondo Disease Ontology (MONDO:0008491), read 2026-09-29. CC BY 4.0.
Features
30 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AnxietyHPOHP:0000739
- Very frequent (80% to 99% of cases)
- EMG abnormalityHPOHP:0003457
- Very frequent (80% to 99% of cases)
- FallsHPOHP:0002527
- Very frequent (80% to 99% of cases)
- HyperhidrosisHPOHP:0000975
- Very frequent (80% to 99% of cases)
- Intermittent painful muscle spasmsHPOHP:0011964
- Very frequent (80% to 99% of cases)
- AgoraphobiaHPOHP:0000756
- Frequent (30% to 79% of cases)
- Anti-Amphiphysin antibodyHPOHP:5000002
- Frequent (30% to 79% of cases)
- Anti-DPPX antibodyHPOHP:5000007
- Frequent (30% to 79% of cases)
- Anti-GAD65 antibodyHPOHP:5000011
- Frequent (30% to 79% of cases)
- Anti-Gephyrin antibodyHPOHP:5000012
- Frequent (30% to 79% of cases)
- Anti-GlyR antibodyHPOHP:5000014
- Frequent (30% to 79% of cases)
- Autoimmune antibody positivityHPOHP:0030057
- Frequent (30% to 79% of cases)
Reported absent (1)
- Abnormal nervous system morphologyHPOHP:0012639
Show the remaining 18
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
- ConstipationHPOHP:0002019
- Frequent (30% to 79% of cases)
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- Emotional labilityHPOHP:0000712
- Frequent (30% to 79% of cases)
- Exaggerated startle responseHPOHP:0002267
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
Where it sits
Other names
3 names
Resolves to: stiff-person syndrome
- Also called
- Moersch-Woltman syndromeStiff Person SyndromeStiff-man syndrome