ORPHA:84142
Isaacs syndrome
Synonyms: Continuous muscle fiber activity syndrome · Isaacs-Mertens syndrome · Quantal squander syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isaacs syndrome | Continuous muscle fiber activity syndrome · Isaacs-Mertens syndrome · Quantal squander syndrome |
| fr | Syndrome d'Isaacs | Syndrome d'Isaacs-Mertens · Syndrome d'activité continue des fibres musculaires |
| de | Isaacs-Syndrom | Quantal-Squander-Syndrom · Syndrom der kontinuierlichen Muskelfaseraktivität · Isaac-Mertens-Syndrom |
| es | Síndrome de Isaacs | Síndrome de Isaacs-Mertens · Síndrome de actividad continua de la fibra muscular |
| it | Sindrome di Isaac | Sindrome "quantal squander" · Sindrome da attività continua delle fibre muscolari · Sindrome di Isaac-Mertens · Sindrome quantal squander |
| nl | Syndroom van Isaacs | Continue spiervezelactiviteit-syndroom · Quantal squander-syndroom · Syndroom van Isaacs-Mertens |
| pt | Síndrome Isaacs | Síndrome Isaacs-Mertens · Síndrome de actividade contínua das fibras musculares |
| pl | Zespół Isaaca | Nadpobudliwość nerwów obwodowych · Neuromiotonia nabyta · Quantal squander syndrome · Zespół Isaaca i Mertensa · Zespół stałej aktywności włókien mięśniowych |
| cs | Isaacův syndrom | Získaná neuromyotonie · Syndrom trvalé aktivity svalových vláken · Periferní nervová hyperexcitabilita · Isaacův-Mertensův syndrom · Isaac-Mertensův syndrom |
| uk | Синдром Ісаака | Синдром безперервної активності мязових волокон · Синдром Айзека-Мертенса · Синдром квантального марнотратства |
| zh | Isaac综合征 | 持续性肌纤维活动综合征 |
| tr | Isaac sendromu | Edinsel nöromiyotoni · Isaac-Mertens sendromu · Quantal skandal sendromu · Sürekli kas lifi aktivite sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G71.1 | NTBT | inclusion | validated |
| ICD-11 | 8C71.4 | E | specific | validated |
| MONDO | 0019399 | E | validated | |
| MeSH | D020386 | E | validated | |
| UMLS | C0242287 | E | validated | |
| GARD | 6793 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:221114Acquired peripheral movement disorder
rare neurological diseases - ORPHA:98750Autoimmune neurological channelopathy
rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 150 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | 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.
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HPO phenotypes
13 annotations · validated 2016-08-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:5000005 | Anti-CASPR2 | |
| HP:0008981 | Calf muscle hypertrophy | |
| HP:0002353 | EEG abnormality | |
| HP:0100288 | EMG: myokymic discharges | Diagnostic criterion |
| HP:0002380 | Fasciculations | |
| HP:0000975 | Hyperhidrosis | Diagnostic criterion |
| HP:0010546 | Muscle fibrillation | |
| HP:0003394 | Muscle spasm | Diagnostic criterion |
| HP:0003552 | Muscle stiffness | |
| HP:0002411 | Myokymia | Diagnostic criterion |
| HP:0001824 | Weight loss | Diagnostic criterion |
| Occasional (29-5%) | ||
| HP:0002936 | Distal sensory impairment | |
| Very rare (<4-1%) | ||
| HP:0001324 | Muscle weakness | |
Annotation source: 25736532[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/84142
- This record as JSON: /data/d/84142.json