ORPHA:43393
Lambert-Eaton myasthenic syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lambert-Eaton myasthenic syndrome | |
| fr | Syndrome myasthénique de Lambert-Eaton | |
| de | Lambert-Eaton-Myasthenie-Syndrom | |
| es | Síndrome miasténico de Lambert-Eaton | |
| it | Sindrome miastenica di Lambert-Eaton | |
| nl | Myastheen syndroom van Lambert-Eaton | |
| pt | Síndrome miasténico de Lambert-Eaton | |
| pl | Zespół miasteniczny Lamberta i Eatona | |
| cs | Lambertův-Eatonův myastenický syndrom | Lambert-Eatonův myastenický syndrom |
| uk | Міастенічний синдром Ламберта-Ітона | |
| zh | Lambert-Eaton肌无力综合征 | |
| tr | Lambert-Eaton miyastenik sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G73.1 | E | specific | validated |
| ICD-11 | 8C62 | E | specific | validated |
| MONDO | 0018556 | E | validated | |
| MeSH | D015624 | E | validated | |
| UMLS | C0022972 | E | validated | |
| GARD | 6851 | E | validated | |
| MedDRA | 10067685 | 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 (3):
- ORPHA:98750Autoimmune neurological channelopathy
rare neurological diseases - ORPHA:464764Immune-mediated acquired neuromuscular junction disease
rare neurological diseases - ORPHA:36388Paraneoplastic neurologic syndrome
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
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.06 / 100 000 | Netherlands | Value and class | Validated | 22094130[PMID]_23690300[PMID] |
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Validated | European Medicines Agency[OTHER] |
| Point prevalence | 1-9 / 1 000 000 | 0.35 / 100 000 | Worldwide | Value and class | Validated | 22094130[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.
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HPO phenotypes
16 annotations · validated 2017-10-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0030209 | Calcium channel antibody positivity | |
| HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | |
| HP:0030000 | EMG: repetitive nerve stimulation abnormality | |
| HP:0009073 | Progressive proximal muscle weakness | Diagnostic criterion |
| HP:0001315 | Reduced tendon reflexes | Diagnostic criterion |
| HP:0000217 | Xerostomia | |
| Frequent (79-30%) | ||
| HP:0000315 | Abnormality of the orbital region | |
| HP:5000027 | Anti-P/Q-type VGCC antibody positivity | |
| HP:0002483 | Bulbar signs | |
| HP:0002019 | Constipation | |
| HP:0000802 | Impotence | |
| HP:0030357 | Small cell lung carcinoma | |
| Occasional (29-5%) | ||
| HP:0000966 | Hypohidrosis | |
| HP:0001097 | Keratoconjunctivitis sicca | |
| HP:0004926 | Orthostatic hypotension due to autonomic dysfunction | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 22094130[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/43393
- This record as JSON: /data/d/43393.json