Stiff person spectrum disorder
Synonyms: Moersch-Woltman syndrome · SMS · SPS · Stiff man spectrum disorder
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Elderly, Infancy
- Status
- active
A rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia related to walking, an exaggerated startle response, and often ankylosing deformities such as fixed lumbar hyperlordosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Stiff person spectrum disorder | Moersch-Woltman syndrome · SMS · SPS · Stiff man spectrum disorder |
| fr | Spectre du syndrome de la personne raide | SHR · SPR · Spectre du syndrome de l'homme raide · Syndrome de Moersch-Woltman |
| de | Stiff-person-Spektrum-Störung | Moersch-Woltman-Syndrom · SMS · SPS · SPSD · Stiff man-Spektrum-Erkrankungen · Stiff-man-Syndrom |
| es | Trastorno del espectro de la persona rígida | SPS · Síndrome de Moersch-Woltman · Trastorno del espectro del hombre rígido |
| it | Spettro della malattia della persona rigida | SPS · SMS · Spettro della malattia dell'uomo rigido · Sindrome di Moersch-Woltman |
| nl | Stiff person-spectrumstoornis | SMS · SPS · Stiff man-spectrumstoornis · Syndroom van Moersch-Woltman |
| pt | Espectro clínico de pessoa-rígida | Espectro clínico de stiff man · SMS · SPS · Síndrome Moersch-Woltman |
| pl | Zespół sztywności uogólnionej i zaburzeń pokrewnych | SPS · Zespół Moerscha i Woltmana · Zespół sztywności uogólnionej |
| cs | Stiff person syndrom a jeho varianty | SMS · SPS · Syndrom stiff-man · Moerschův-Woltmannův syndrom · Moersch-Woltmannův syndrom |
| uk | Розлад спектру синдрому ригідної людини | Синдром Мерша-Вольтмана · SMS · SPS · Синдром закляклої людини |
| zh | 僵人综合征 | Moersch-Woltman综合征 |
| tr | Stiff person spektrum bozukluğu | SMS · SPS · Stiff man sendromu · Moersch-Woltman sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 184850 | E | validated | |
| ICD-10 | G25.8 | NTBT | inclusion | validated |
| ICD-11 | 8E4A.0 | NTBT | index | validated |
| MONDO | 0008491 | E | validated | |
| MONDO | 8491 | E | validated | |
| UMLS | C0085292 | E | validated | |
| GARD | 5023 | E | validated | |
| MedDRA | 10072148 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:181381Other rare diabetes mellitus
rare endocrine diseases - ORPHA:102003Rare movement disorder
rare neurological diseases - ORPHA:182064Rare neuroinflammatory or neuroimmunological disease
rare neurological diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | 21921002[PMID]_ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.15 / 100 000 | United Kingdom | Value and class | Validated | 21921002[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.09 / 100 000 | Tanzania, United Republic of | Value and class | Validated | 26316197[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
32 annotations · validated 2024-10-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000739 | Anxiety | |
| HP:0003457 | EMG abnormality | |
| HP:0002527 | Falls | |
| HP:0000975 | Hyperhidrosis | |
| HP:0011964 | Intermittent painful muscle spasms | |
| Frequent (79-30%) | ||
| HP:0000756 | Agoraphobia | |
| HP:5000002 | Anti-Amphiphysin antibody | |
| HP:5000007 | Anti-DPPX antibody | |
| HP:5000011 | Anti-GAD65 antibody | |
| HP:5000012 | Anti-Gephyrin antibody | |
| HP:5000014 | Anti-GlyR antibody | |
| HP:0030057 | Autoimmune antibody positivity | |
| HP:0100543 | Cognitive impairment | |
| HP:0002019 | Constipation | |
| HP:0002015 | Dysphagia | |
| HP:0000712 | Emotional lability | |
| HP:0002267 | Exaggerated startle response | |
| HP:0001288 | Gait disturbance | |
| HP:0001288 | Gait disturbance | |
| HP:0001347 | Hyperreflexia | |
| HP:0003326 | Myalgia | |
| HP:0001336 | Myoclonus | |
| HP:0012894 | Paraspinal muscle hypertrophy | |
| HP:0002063 | Rigidity | |
| Occasional (29-5%) | ||
| HP:0002104 | Apnea | |
| HP:0000819 | Diabetes mellitus | |
| HP:0000651 | Diplopia | |
| HP:0031825 | Freezing of gait | |
| HP:0000821 | Hypothyroidism | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0002321 | Vertigo | |
| Excluded (0%) | ||
| HP:0012639 | Abnormal nervous system morphology | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 37154293[PMID]_35717735[PMID]_33183848[PMID]_34313523[PMID]_26989571[PMID]_27756410[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3198
- This record as JSON: /data/d/3198.json