LEMS
MCID: LMB002
MIFTS: 49

Lambert-Eaton Myasthenic Syndrome (LEMS) malady

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Lambert-Eaton Myasthenic Syndrome

Aliases & Descriptions for Lambert-Eaton Myasthenic Syndrome:

Name: Lambert-Eaton Myasthenic Syndrome 12 51 56 52 42 14 69
Lems 12 50
Myasthenic-Myopathic Syndrome of Lambert-Eaton 50
Myasthenic Syndrome of Lambert-Eaton 50
Lambert Eaton Myasthenic Syndrome 50
Eaton-Lambert Syndrome 12
Lambert-Eaton Syndrome 12
Eaton Lambert Syndrome 50
Lambert Eaton Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
lambert-eaton myasthenic syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Netherlands),1-9/100000 (Europe),1-9/1000000 (Worldwide); Age of onset: Adult; Age of death: normal life expectancy;

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050214
ICD10 33 G70.80 G73.1
ICD9CM 35 358.3
MeSH 42 D015624
NCIt 47 C3155
SNOMED-CT 64 230688006 56989000
Orphanet 56 ORPHA43393
MESH via Orphanet 43 D015624
UMLS via Orphanet 70 C0022972
ICD10 via Orphanet 34 G73.1
UMLS 69 C0022972

Summaries for Lambert-Eaton Myasthenic Syndrome

NINDS : 51 Lambert-Eaton myasthenic syndrome (LEMS) is a disorder of the neuromuscular junction-the site where nerve cells meet muscle cells and help activate the muscles. It is caused by a disruption of electrical impulses between these nerve and muscle cells. LEMS is an autoimmune condition; in such disorders the immune system, which normally protects the body from foreign organisms, mistakenly attacks the body's own tissues. The disruption of electrical impulses is associated with antibodies produced as a consequence of this autoimmunity. Symptoms include muscle weakness, a tingling sensation in the affected areas, fatigue, and dry mouth. LEMS is closely associated with cancer, in particular small cell lung cancer. More than half the individuals diagnosed with LEMS also develop small cell lung cancer. LEMS may appear up to 3 years before cancer is diagnosed.

MalaCards based summary : Lambert-Eaton Myasthenic Syndrome, also known as lems, is related to paraneoplastic syndromes and paraneoplastic neurologic disorders. An important gene associated with Lambert-Eaton Myasthenic Syndrome is CACNB2 (Calcium Voltage-Gated Channel Auxiliary Subunit Beta 2), and among its related pathways/superpathways are Transmission across Chemical Synapses and TCR Signaling (Qiagen). The drugs 4-Aminopyridine and Potassium Channel Blockers have been mentioned in the context of this disorder. Affiliated tissues include lung, prostate and t cells, and related phenotypes are Decreased viability and behavior/neurological

NIH Rare Diseases : 50 lambert eaton myasthenic syndrome (lems) is a disorder of the neuromuscular junction. the neuromuscular junction is the site where nerve cells meet muscle cells and help activate the muscles. this syndrome occurs when antibodies interfere with electrical impulses between the nerve and muscle cells. it may be associated with other autoimmune diseases, or more commonly coincide with or precede a diagnosis of cancer such as small cell lung cancer. symptoms may include muscle weakness, a tingling sensation in the affected areas, fatigue, and dry mouth. treatment of an underlying disorder or cancer is the first priority of treatment. last updated: 12/22/2016

Disease Ontology : 12 A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal.

Wikipedia : 71 Lambert–Eaton myasthenic syndrome (LEMS) is a rare autoimmune disorder that is characterized by muscle... more...

Related Diseases for Lambert-Eaton Myasthenic Syndrome

Diseases related to Lambert-Eaton Myasthenic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
id Related Disease Score Top Affiliating Genes
1 paraneoplastic syndromes 11.7
2 paraneoplastic neurologic disorders 11.3
3 myasthenic syndrome, congenital, 7, presynaptic 11.3
4 congenital myasthenic syndrome 11.2
5 tularemia 10.8
6 lambert syndrome 10.8
7 lung cancer 10.8
8 myasthenia gravis 10.8
9 cerebellar degeneration 10.6
10 small cell carcinoma 10.5
11 respiratory failure 10.5
12 subacute cerebellar degeneration 10.4
13 neuronitis 10.4
14 lupus erythematosus 10.4
15 adenocarcinoma 10.4
16 paraneoplastic cerebellar degeneration 10.4
17 systemic lupus erythematosus 10.3
18 dermatomyositis 10.3
19 merkel cell carcinoma 10.3
20 arthritis 10.3
21 autonomic dysfunction 10.3
22 neuropathy 10.3
23 transitional cell carcinoma 10.2
24 rheumatoid arthritis 10.2
25 neuroblastoma 10.2
26 cerebellar ataxia 10.2
27 thymic hyperplasia 10.2
28 ataxia 10.2
29 mediastinitis 10.2
30 leukemia 10.2
31 prostatitis 10.2
32 muscle disorders 10.1
33 prostate adenocarcinoma 10.1
34 encephalitis 10.1
35 discoid lupus erythematosus 10.1
36 neutropenia 10.1
37 thymic neuroendocrine carcinoma 10.1
38 hairy cell leukemia 10.1
39 large granular lymphocyte leukemia 10.1
40 ameloblastoma 10.1
41 limbic encephalitis 10.1
42 ptosis 10.1
43 thymoma 10.1
44 opsoclonus-myoclonus syndrome 10.1
45 cardiac arrest 10.1
46 purpura 10.1
47 intracranial aneurysm 10.1
48 myopathy 10.1
49 psoriatic arthritis 10.1
50 neurogenic bladder 10.1

Graphical network of the top 20 diseases related to Lambert-Eaton Myasthenic Syndrome:



Diseases related to Lambert-Eaton Myasthenic Syndrome

Symptoms & Phenotypes for Lambert-Eaton Myasthenic Syndrome

GenomeRNAi Phenotypes related to Lambert-Eaton Myasthenic Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.4 MUSK
2 Decreased viability GR00173-A 9.4 MUSK
3 Decreased viability GR00221-A-1 9.4 MUSK SOX2
4 Decreased viability GR00221-A-2 9.4 TTN
5 Decreased viability GR00221-A-4 9.4 MUSK SOX2 SYT2 TTN
6 Decreased viability GR00342-S-1 9.4 TTN
7 Decreased viability GR00342-S-3 9.4 TTN
8 Decreased viability GR00381-A-1 9.4 SYT2

MGI Mouse Phenotypes related to Lambert-Eaton Myasthenic Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.87 CACNA1A CACNA1B MUSK SOX2 SOX3 SYT2
2 growth/size/body region MP:0005378 9.86 CACNA1B CACNB2 MUSK SOX2 SOX3 SYT2
3 homeostasis/metabolism MP:0005376 9.76 CACNA1A CACNA1B CACNB2 ERC1 MUSK SOX2
4 mortality/aging MP:0010768 9.61 CACNA1A CACNA1B CACNB2 ERC1 MUSK SOX2
5 nervous system MP:0003631 9.17 SYT2 CACNA1A CACNA1B CACNB2 MUSK SOX2

Drugs & Therapeutics for Lambert-Eaton Myasthenic Syndrome

Drugs for Lambert-Eaton Myasthenic Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
4-Aminopyridine Approved Phase 3,Phase 2 504-24-5 1727
2 Potassium Channel Blockers Phase 3,Phase 2
3 3,4-diaminopyridine Phase 3,Phase 2
4
Ephedrine Approved Phase 1, Phase 2 299-42-3 9294
5
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
6
Pseudoephedrine Approved Phase 1, Phase 2 90-82-4 7028
7 tannic acid Approved, Nutraceutical Phase 2
8 Adrenergic Agents Phase 1, Phase 2
9 Nasal Decongestants Phase 1, Phase 2
10 Neurotransmitter Agents Phase 1, Phase 2
11 Peripheral Nervous System Agents Phase 1, Phase 2
12 Vasoconstrictor Agents Phase 1, Phase 2
13 Anti-Asthmatic Agents Phase 1, Phase 2
14 Respiratory System Agents Phase 1, Phase 2
15 Autonomic Agents Phase 1, Phase 2
16 Bronchodilator Agents Phase 1, Phase 2
17 Central Nervous System Stimulants Phase 1, Phase 2
18 Adrenergic Agonists Phase 1
19 Adrenergic beta-2 Receptor Agonists Phase 1
20 Adrenergic beta-Agonists Phase 1
21 Albuterol Phase 1
22 Tocolytic Agents Phase 1
23
nivolumab Approved 946414-94-4

Interventional clinical trials:

(show all 22)
id Name Status NCT ID Phase
1 A Phase 3 Study of Amifampridine Phosphate in Patients With Lambert Eaton Myasthenic Syndrome (LEMS) Completed NCT01377922 Phase 3
2 Phase 3 Study to Evaluate Efficacy of Amifampridine Phosphate in Lambert-Eaton Myasthenic Syndrome (LEMS) Recruiting NCT02970162 Phase 3
3 Amifampridine Phosphate for the Treatment of Congenital Myasthenic Syndromes Recruiting NCT02562066 Phase 3
4 Use of 3,4-Diaminopyridine in the Treatment of Lambert-Eaton Syndrome Available NCT01825395 Phase 3
5 Effectiveness of 3,4-Diaminopyridine in Lambert-Eaton Myasthenic Syndrome Unknown status NCT01511978 Phase 2
6 Ephedrine for the Treatment of Congenital Myasthenia Unknown status NCT00541216 Phase 1, Phase 2
7 Efficacy of Albuterol in the Treatment of Congenital Myasthenic Syndromes Completed NCT01203592 Phase 1
8 Randomized Study of 3,4-Diaminopyridine for Lambert-Eaton Myasthenic Syndrome Completed NCT00004832
9 Pregnancy Outcomes in Congenital Myasthenie Syndrome Completed NCT01474980
10 3,4-Diaminopyridine Use in Lambert-Eaton Myasthenic Syndrome(LEMS) and Congenital Myasthenic Syndromes (CMS) Recruiting NCT00872950
11 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
12 National Registry for Egyptian Pediatric Neuromuscular Diseases Recruiting NCT02124616
13 Pattern of Use and Safety/Effectiveness of Nivolumab in Routine Oncology Practice Recruiting NCT02847728
14 Treatment of Lambert-Eaton Syndrome With 3,4 Diaminopyridine Available NCT00994916
15 Treatment of Lambert-Eaton Syndrome With 3,4 DAP Available NCT00704925
16 3,4-Diaminopyridine for Lambert-Eaton Myasthenic Syndrome (LEMS) and Congenital Myasthenia (CM) Available NCT02012933
17 Treatment Use of 3,4 Diaminopyridine in Congenital Myasthenia and Lambert-Eaton Syndrome Available NCT03062631
18 Treatment Use of 3,4-Diaminopyridine Available NCT01765140
19 Expanded Access Study Amifampridine Phosphate in Lambert-Eaton Myasthenic Syndrome (LEMS), Congenital Myasthenic Syndrome (CMS), or Downbeat Nystagmus Patients Available NCT02189720
20 Controlled Trial of 3,4-Diaminopyridine (3-4DAP) in Lambert-Eaton Myasthenic Syndrome (LEMS) Enrolling by invitation NCT02090725
21 Use Of 3,4-Diaminopyridine (3,4-DAP) In The Treatment Of Lambert Eaton Myasthenic Syndrome No longer available NCT01373333
22 Treatment of Lambert-Eaton Myasthenic Syndrome (LEMS) With 3, 4 DAP No longer available NCT01378546

Search NIH Clinical Center for Lambert-Eaton Myasthenic Syndrome

Cochrane evidence based reviews: lambert-eaton myasthenic syndrome

Genetic Tests for Lambert-Eaton Myasthenic Syndrome

Anatomical Context for Lambert-Eaton Myasthenic Syndrome

MalaCards organs/tissues related to Lambert-Eaton Myasthenic Syndrome:

39
Lung, Prostate, T Cells, Testes, B Cells, Breast, Pituitary

Publications for Lambert-Eaton Myasthenic Syndrome

Articles related to Lambert-Eaton Myasthenic Syndrome:

(show top 50) (show all 374)
id Title Authors Year
1
Successful treatment of Lambert-Eaton myasthenic syndrome in a small cell lung cancer patient using 3,4-diaminopyridine: A case report. ( 26998103 )
2016
2
Palliative care for a patient with Lambert-Eaton myasthenic syndrome: role of 3,4-diaminopyridine. ( 27506750 )
2016
3
Myasthenia Gravis and Lambert-Eaton Myasthenic Syndrome. ( 27922503 )
2016
4
Tubular aggregates in autoimmune Lambert-Eaton myasthenic syndrome. ( 27816328 )
2016
5
Lambert-Eaton myasthenic syndrome (LEMS): Epidemiology and therapeutic response in the national Veterans Affairs (VA) population. ( 27997683 )
2016
6
Modelling the response to low-frequency repetitive nerve stimulation of myasthenia gravis and Lambert-Eaton myasthenic syndrome. ( 27016366 )
2016
7
Relapse of both small cell lung cancer and Lambert-Eaton myasthenic syndrome after a 13-year disease-free survival period. ( 27370896 )
2016
8
Lambert-Eaton myasthenic syndrome in a patient with small-cell lung cancer: A case report. ( 26622673 )
2015
9
Lambert-Eaton Myasthenic Syndrome: Ocular Signs and Symptoms. ( 25993122 )
2015
10
Lambert-Eaton myasthenic syndrome and Merkel cell carcinoma. ( 26452332 )
2015
11
Efficacy of intravenous immunoglobulin for treatment of Lambert-Eaton myasthenic syndrome without anti-presynaptic P/Q-type voltage-gated calcium channel antibodies: a case report. ( 25444432 )
2015
12
Long-term observation of incremental response and antibodies to voltage-gated calcium channels in patients with Lambert-Eaton myasthenic syndrome: two case reports. ( 25885033 )
2015
13
Presynaptic Disorders: Lambert-Eaton Myasthenic Syndrome and Botulism. ( 26502758 )
2015
14
Lambert-Eaton myasthenic syndrome in patients with small cell lung cancer: Report of five cases. ( 26323934 )
2015
15
Mediastinal small cell cancer associated with Lambert-Eaton myasthenic syndrome: A case report. ( 26170921 )
2015
16
Repetitive nerve stimulation and single-fiber electromyography in the evaluation of patients with suspected myasthenia gravis or Lambert-Eaton myasthenic syndrome: Review of recent literature. ( 26109387 )
2015
17
Lambert-Eaton myasthenic syndrome associated to Merkel cell carcinoma: report of a case. ( 25698125 )
2015
18
Lambert-Eaton myasthenic syndrome and prostatic adenocarcinoma. ( 26143177 )
2015
19
Lambert-Eaton myasthenic syndrome associated with thymic neuroendocrine carcinoma. ( 25702627 )
2015
20
Conjoint occurrence of GABAB receptor antibodies in Lambert-Eaton myasthenic syndrome with antibodies to the voltage gated calcium channel. ( 24929678 )
2014
21
Italian recommendations for Lambert-Eaton myasthenic syndrome (LEMS) management. ( 24481713 )
2014
22
Proteasome inhibitors for malignancy-related Lambert-Eaton myasthenic syndrome. ( 24464710 )
2014
23
Lambert-Eaton myasthenic syndrome during anesthesia: a report of 37 patients. ( 25468580 )
2014
24
Complete reversal of Lambert-Eaton myasthenic syndrome synaptic impairment by the combined use of a K+ channel blocker and a Ca2+ channel agonist. ( 25015919 )
2014
25
Lung squamous carcinoma with two paraneoplastic syndromes -Dermatomyositis and Lambert-Eaton myasthenic syndrome. ( 25335449 )
2014
26
Post-exercise exhaustion in Lambert-Eaton myasthenic syndrome. ( 24128793 )
2014
27
Limbic encephalitis and Lambert Eaton myasthenic syndrome - An immunological profile of a new syndrome. ( 24269050 )
2014
28
Surgery results in complete cure of Lambert-Eaton myasthenic syndrome in a patient with metastatic Merkel cell carcinoma. ( 24704152 )
2014
29
Lambert-Eaton myasthenic syndrome in a 13-year-old girl with Xp11.22-p11.23 duplication. ( 24461257 )
2014
30
Synaptic Pathophysiology and Treatment of Lambert-Eaton Myasthenic Syndrome. ( 25195700 )
2014
31
Myasthenia gravis and lambert-eaton myasthenic syndrome. ( 25299290 )
2014
32
Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy. ( 25192047 )
2014
33
Lambert-Eaton myasthenic syndrome - Diagnosis, pathogenesis and therapy. ( 25065299 )
2014
34
The exhaustibility of Lambert-Eaton myasthenic syndrome. ( 24125855 )
2014
35
Myasthenis Gravis or Lambert-Eaton Myasthenic Syndrome? ( 25133625 )
2014
36
Clinical presentation and differential diagnosis of Lambert-Eaton myasthenic syndrome. ( 23545618 )
2013
37
Child neurology: diagnosis of Lambert-Eaton myasthenic syndrome in children. ( 23690300 )
2013
38
Myopathic EMG findings and type II muscle fiber atrophy in patients with Lambert-Eaton myasthenic syndrome. ( 23643575 )
2013
39
Antibodies to active zone protein ERC1 in Lambert-Eaton myasthenic syndrome. ( 23583364 )
2013
40
Lambert-Eaton Myasthenic Syndrome presenting with a "dropped head syndrome" and associated with antibodies against N-type calcium channels. ( 23053834 )
2013
41
Paraneoplastic syndromes of the neuromuscular junction: therapeutic options in myasthenia gravis, lambert-eaton myasthenic syndrome, and neuromyotonia. ( 23263888 )
2013
42
Single-fiber EMG and clinical correlation in Lambert-Eaton myasthenic syndrome. ( 23505075 )
2013
43
Pseudomyopathic changes in needle electromyography in lambert-eaton myasthenic syndrome. ( 23970984 )
2013
44
Fluoro-2-deoxy-D-glucose positron emission tomography/computed tomography imaging in the investigation of Lambert-Eaton myasthenic syndrome. ( 24141446 )
2013
45
Wilms tumor presenting with Lambert-Eaton myasthenic syndrome. ( 23612377 )
2013
46
Lambert-Eaton myasthenic syndrome in mixed small cell carcinoma and adenocarcinoma of extrapulmonary origin. ( 23298881 )
2013
47
Evaluation of a novel calcium channel agonist for therapeutic potential in Lambert-Eaton myasthenic syndrome. ( 23785168 )
2013
48
Long-Term Follow-Up in Infantile-Onset Lambert-Eaton Myasthenic Syndrome. ( 24114606 )
2013
49
Large granular lymphocytic leukemia associated with Lambert-Eaton Myasthenic Syndrome: A case report. ( 24371773 )
2013
50
Low rate repetitive nerve stimulation in Lambert-Eaton myasthenic syndrome: peculiar characteristics of decremental pattern from a single-centre experience. ( 23036181 )
2013

Variations for Lambert-Eaton Myasthenic Syndrome

Expression for Lambert-Eaton Myasthenic Syndrome

Search GEO for disease gene expression data for Lambert-Eaton Myasthenic Syndrome.

Pathways for Lambert-Eaton Myasthenic Syndrome

Pathways related to Lambert-Eaton Myasthenic Syndrome according to GeneCards Suite gene sharing:

(show all 15)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.68 CACNA1A CACNA1B CACNB2 SYT2
2
Show member pathways
12.51 CACNA1A CACNA1B CACNB2 HLA-DQA1
3
Show member pathways
12.17 CACNA1A CACNA1B CACNB2
4
Show member pathways
12.08 CACNA1A CACNA1B CACNB2
5 11.99 CACNA1A CACNA1B CACNB2
6
Show member pathways
11.9 CACNA1A CACNA1B CACNB2
7 11.65 CACNA1A CACNA1B CACNB2
8
Show member pathways
11.55 CACNA1A CACNA1B CACNB2
9 11.41 CACNA1A CACNA1B CACNB2
10 11.14 SOX2 SOX3
11 11.08 CACNA1A CACNA1B
12 10.9 CACNA1A CACNA1B CACNB2
13 10.73 CACNA1A CACNA1B
14 10.49 CACNA1A CACNA1B CACNB2
15 10.23 CACNA1A CACNA1B

GO Terms for Lambert-Eaton Myasthenic Syndrome

Cellular components related to Lambert-Eaton Myasthenic Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 voltage-gated calcium channel complex GO:0005891 8.8 CACNA1A CACNA1B CACNB2

Biological processes related to Lambert-Eaton Myasthenic Syndrome according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.65 CACNA1A CACNA1B CACNB2
2 negative regulation of neuron differentiation GO:0045665 9.52 SOX2 SOX3
3 neurotransmitter secretion GO:0007269 9.51 CACNA1B SYT2
4 regulation of ion transmembrane transport GO:0034765 9.5 CACNA1A CACNA1B CACNB2
5 calcium ion-regulated exocytosis of neurotransmitter GO:0048791 9.49 CACNA1A SYT2
6 regulation of calcium ion-dependent exocytosis GO:0017158 9.46 CACNA1A SYT2
7 pituitary gland development GO:0021983 9.43 SOX2 SOX3
8 neuromuscular junction development GO:0007528 9.4 CACNB2 MUSK
9 membrane depolarization during action potential GO:0086010 9.37 CACNA1A CACNA1B
10 membrane depolarization GO:0051899 9.26 CACNA1A CACNA1B
11 response to pain GO:0048265 9.16 CACNA1A CACNA1B
12 calcium ion transport GO:0006816 9.13 CACNA1A CACNA1B CACNB2
13 calcium ion transmembrane transport GO:0070588 8.8 CACNA1A CACNA1B CACNB2

Molecular functions related to Lambert-Eaton Myasthenic Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 calcium channel activity GO:0005262 9.33 CACNA1A CACNA1B CACNB2
2 voltage-gated calcium channel activity GO:0005245 9.13 CACNA1A CACNA1B CACNB2
3 high voltage-gated calcium channel activity GO:0008331 8.8 CACNA1A CACNA1B CACNB2

Sources for Lambert-Eaton Myasthenic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....