Focal stiff limb syndrome
Synonyms: Focal stiff-person syndrome · Stiff leg syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rare stiff person spectrum disorder characterized by painful episodic spasms (which are often precipitated by touch, pain, cold, movement, or negative emotions), increased stimulus sensitivity including hyperekplexia, as well as stiffness, in a lower or upper limb, typically with insidious onset and progression over months or years. The condition may eventually progress into classic stiff person syndrome. Fear of leaving the house and walking unaided is characteristic. Most patients have autoantibodies in serum and CSF, in particular anti-glutamic acid decarboxylase (GAD) antibodies. In rare cases, the syndrome is of paraneoplastic origin.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Focal stiff limb syndrome | Focal stiff-person syndrome · Stiff leg syndrome |
| fr | Syndrome de la jambe raide | Syndrome des jambes raides |
| de | Fokales Stiff-Limb-Syndrom | Fokales Stiff-Person-Syndrom · Stiff-Leg-Syndrom |
| es | Síndrome de extremidad rígida focal | Síndrome de persona rígida focal · Síndrome de pierna rígida |
| it | Sindrome focale dell'arto rigido | Sindrome della gamba rigida · Sindrome focale della persona rigida |
| nl | Focaal stiff limb-syndroom | Focaal stiff person-syndroom · Stiff leg-syndroom · Stijf been-syndroom |
| pt | Síndrome focal de membro rígido | Síndrome da perna rígida · Síndrome focal de pessoa rígida |
| pl | Ogniskowy zespół sztywnej nogi | Ogniskowy zespół sztywności uogólnionej · Zespół sztywnej nogi |
| cs | Fokální syndrom ztuhlé končetiny | Fokální stiff-person syndrom · Syndrom ztuhlých nohou · Fokální syndrom ztuhlého těla |
| uk | Вогнищевий синдром ригідності кінцівок | Фокальний синдром скутості · Синдром затерплих ніг |
| zh | 局部肢体僵硬综合征 | 局部僵直综合征 |
| tr | Fokal sert ekstremite sendromu | Sert bacak sendromu · Fokal katı kişi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 184850 | NTBT | validated | |
| ICD-10 | G25.8 | NTBT | attributed | validated |
| MONDO | 0018629 | E | validated | |
| UMLS | C4324606 | E | validated | |
| MedDRA | 10079359 | 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 (1):
- ORPHA:3198Stiff person spectrum disorder
rare neurological diseases; rare endocrine diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | Unknown | — | Europe | Class only | Validated | ORPHANET |
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
17 annotations · validated 2024-10-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000756 | Agoraphobia | |
| HP:0025329 | Anti-glutamic acid decarboxylase antibody positivity | |
| HP:0002960 | Autoimmunity | |
| HP:0001348 | Brisk reflexes | |
| HP:0100283 | EMG: continuous motor unit activity at rest | |
| HP:0002527 | Falls | |
| HP:0001288 | Gait disturbance | |
| HP:0002540 | Inability to walk | |
| HP:0003394 | Muscle spasm | |
| HP:0002063 | Rigidity | |
| Occasional (29-5%) | ||
| HP:5000002 | Anti-Amphiphysin antibody | |
| HP:5000007 | Anti-DPPX antibody | |
| HP:5000012 | Anti-Gephyrin antibody | |
| HP:0000739 | Anxiety | |
| HP:0031825 | Freezing of gait | |
| HP:0001387 | Joint stiffness | |
| HP:0045084 | Limb myoclonus | |
Annotation source: 35131796[PMID]_30363910[PMID]_32258231[PMID]_31804328[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/443804
- This record as JSON: /data/d/443804.json