MCID: CNG001
MIFTS: 56

Congenital Myasthenic Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases

Aliases & Classifications for Congenital Myasthenic Syndrome

About this section
Sources:
10Disease Ontology, 45NIH Rare Diseases, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 11diseasecard, 24GTR, 21GeneReviews, 22GeneTests, 46NINDS, 47Novoseek, 36MeSH, 65UMLS, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 66UMLS via Orphanet, 37MESH via Orphanet
See all MalaCards sources

Aliases & Descriptions for Congenital Myasthenic Syndrome:

Name: Congenital Myasthenic Syndrome 10 45 23 12 51
Congenital Myasthenia 21 45 22 23 46
Myasthenic Syndromes, Congenital 36 24 65
Congenital Myasthenic Syndromes 21 22 23
Cms 45 23 51
Myasthenia, Limb-Girdle, Familial 11 24
 
Myasthenia, Familial Infantile, 1 11 24
Congenital Myasthenic Syndrome Ib 65
Myasthenic Syndromes Congenital 47
Familial Limb-Girdle Myasthenia 10
Familial Infantile Myasthenia 1 10
Myasthenia - Congenital 46

Characteristics:

Orphanet epidemiological data:

51
congenital myasthenic syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age

Classifications:



External Ids:

Disease Ontology10 DOID:3635
MeSH36 D020294
NCIt42 C84647
Orphanet51 590
SNOMED-CT59 230672006
ICD10 via Orphanet28 G70.2
UMLS via Orphanet66 C0751882
MESH via Orphanet37 D020294
UMLS65 C0751882, C1850792

Summaries for Congenital Myasthenic Syndrome

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NIH Rare Diseases:45 Congenital myasthenic syndrome (cms) is a group of genetic disorders that result in muscle weakness and fatigue. symptoms can range from mild weakness to progressive disabling weakness. there are three main subtypes of cms, which are defined by how they affect the connection between muscles and the nervous system: postsynaptic (75-80% of patients), synaptic (14-15% of patients), and presynaptic (7-8% of patients). identification of the specific subtype is important in patient care for determining the most effective treatment. mutations in many genes have been found to cause cms, and most forms of cms are inherited in an autosomal recessive pattern. one form of cms, a postsynaptic form known as slow-channel syndrome congenital myasthenic syndrome is inherited in an autosomal dominant manner. last updated: 7/10/2013

MalaCards based summary: Congenital Myasthenic Syndrome, also known as congenital myasthenia, is related to synaptic congenital myasthenic syndromes and myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency, and has symptoms including ophthalmoparesis, respiratory distress and facial paresis. An important gene associated with Congenital Myasthenic Syndrome is DOK7 (Docking Protein 7), and among its related pathways are ECM proteoglycans and Postsynaptic nicotinic acetylcholine receptors. Affiliated tissues include eye, skeletal muscle and lung, and related mouse phenotypes are respiratory system and muscle.

Disease Ontology:10 A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).

Genetics Home Reference:23 Congenital myasthenic syndrome is a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical exertion. The muscle weakness typically begins in early childhood but can also appear in adolescence or adulthood. Facial muscles, including muscles that control the eyelids, muscles that move the eyes, and muscles used for chewing and swallowing, are most commonly affected. However, any of the muscles used for movement (skeletal muscles) can be affected in this condition. Due to muscle weakness, affected infants may have feeding difficulties. Development of motor skills such as crawling or walking may be delayed. The severity of the myasthenia varies greatly, with some people experiencing minor weakness and others having such severe weakness that they are unable to walk.

NINDS:46 All forms of myasthenia are due to problems in the communication between nerve cells and muscles. Most involve the activities of neurotransmitters. Neurotransmitters are chemicals that allow neurons to relay information from one cell to the next. For neurotransmitters to be effective, the nerve cell must release the neurotransmitter properly, and the muscle cell must be able to detect the neurotransmitter and respond to its signal properly.

Wikipedia:68 Congenital myasthenic syndrome (CMS) is an inherited neuromuscular disorder caused by defects of several... more...

GeneReviews summary for NBK1168

Related Diseases for Congenital Myasthenic Syndrome

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Diseases in the Congenital Myasthenic Syndrome family:

Myasthenic Syndrome, Congenital, 5 Myasthenic Syndrome, Congenital, 10
Myasthenic Syndrome, Congenital, 17 Myasthenic Syndrome, Congenital, 16
Myasthenic Syndrome, Congenital, 18 Agrn-Related Congenital Myasthenic Syndrome
Chat-Related Congenital Myasthenic Syndrome Chrna1-Related Congenital Myasthenic Syndrome
Chrnb1-Related Congenital Myasthenic Syndrome Chrnd-Related Congenital Myasthenic Syndrome
Chrne-Related Congenital Myasthenic Syndrome Colq-Related Congenital Myasthenic Syndrome
Dok7-Related Congenital Myasthenic Syndrome Gfpt1-Related Congenital Myasthenic Syndrome
Musk-Related Congenital Myasthenic Syndrome Rapsn-Related Congenital Myasthenic Syndrome
Scn4a-Related Congenital Myasthenic Syndrome Snap25-Related Congenital Myasthenic Syndrome
Syt2-Related Congenital Myasthenic Syndrome

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

(show top 50)    (show all 70)
idRelated DiseaseScoreTop Affiliating Genes
1synaptic congenital myasthenic syndromes33.3AGRN, CHAT
2myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency32.8CHRNB1, CHRNE, RAPSN
3myasthenic syndrome, congenital, 1a, slow-channel32.2CHAT, CHRNA1, CHRND
4myasthenic syndrome, congenital, 1b, fast-channel32.0CHAT, CHRNA1, CHRND
5myasthenic syndrome, congenital, 3b, fast-channel30.6CHRNB1, CHRND
6myasthenic syndrome, congenital, 3a, slow-channel30.5CHRNB1, CHRND
7myasthenic syndrome, congenital, 4b, fast-channel30.5CHRNB1, CHRNE, RAPSN
8myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency30.4CHRNB1, CHRND
9slow-channel congenital myasthenic syndrome12.1
10congenital myasthenic syndrome with episodic apnea12.1
11presynaptic congenital myasthenic syndromes12.1
12musk-related congenital myasthenic syndrome12.0
13agrn-related congenital myasthenic syndrome11.9
14chrna1-related congenital myasthenic syndrome11.9
15postsynaptic congenital myasthenic syndromes11.9
16congenital myasthenic syndrome associated with acetylcholine receptor deficiency11.9
17alg14-related congenital myasthenic syndrome without tubular aggregates11.9
18chat-related congenital myasthenic syndrome11.9
19chrnb1-related congenital myasthenic syndrome11.9
20chrnd-related congenital myasthenic syndrome11.9
21chrne-related congenital myasthenic syndrome11.9
22colq-related congenital myasthenic syndrome11.9
23dok7-related congenital myasthenic syndrome11.9
24gfpt1-related congenital myasthenic syndrome11.9
25rapsn-related congenital myasthenic syndrome11.9
26scn4a-related congenital myasthenic syndrome11.9
27snap25-related congenital myasthenic syndrome11.9
28syt2-related congenital myasthenic syndrome11.9
29congenital myasthenic syndromes with glycosylation defect11.9
30capillary malformation-arteriovenous malformation11.6
31myasthenic syndrome, congenital, 511.5
32myasthenic syndrome, congenital, 1011.4
33myasthenic syndrome, congenital, 6, presynaptic11.4
34myasthenic syndrome, congenital, 1611.4
35myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects11.2
36myasthenic syndrome, congenital, 4a, slow-channel11.2
37myasthenic syndrome, congenital, 13, with tubular aggregates11.2
38specific bursitis often of occupational origin10.2CHRNA1, CHRND
39leukemia, chronic lymphocytic 110.1CHRNB1, MUSK, RAPSN
40schimke immunoosseous dysplasia10.1CHRNA1, CHRND, RAPSN
41myasthenic syndrome, congenital, 7, presynaptic10.1
42myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency10.1
43myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency10.1
44myasthenic syndrome, congenital, 2a, slow-channel10.1
45myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency10.1
46myasthenia gravis10.0
47interstitial lung disease10.0CHRND, DOK7
48epileptic encephalopathy, early infantile, 2510.0CHRNB1, CHRNE, MUSK, RAPSN
49gallbladder disease9.9CHRNE, DOK7, MUSK, RAPSN
50myasthenic syndrome, congenital, 15, without tubular aggregates9.9

Graphical network of the top 20 diseases related to Congenital Myasthenic Syndrome:



Diseases related to congenital myasthenic syndrome

Symptoms for Congenital Myasthenic Syndrome

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UMLS symptoms related to Congenital Myasthenic Syndrome:


ophthalmoparesis, respiratory distress, facial paresis

Drugs & Therapeutics for Congenital Myasthenic Syndrome

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

(show all 19)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DalfampridineapprovedPhase 362504-24-51727
Synonyms:
.gamma.-Aminopyridine
275875_ALDRICH
36687_FLUKA
36687_RIEDEL
4 AP
4 Aminopyridine
4 Aminopyridine Sustained Release
4-AP
4-Aminopyridine
4-Aminopyridine 10
4-Aminopyridine Sustained Release
4-Pyridinamine
4-Pyridylamine
4-aminopyridine
5-22-09-00106 (Beilstein Handbook Reference)
504-24-5
A 0152
A0414
A78403_ALDRICH
AB1004971
AC-907/25014071
AC1L1C3R
AC1Q52BM
AI3-52547
AKOS000119896
Amaya
Amino-4 pyridine
Amino-4-Pyridine
Ampydin
Ampyra
Avitrol
Avitrol 200
BB_SC-6974
BRN 0105782
BSPBio_001562
Bio1_000353
Bio1_000842
Bio1_001331
Bio2_000282
Bio2_000762
C13728
C5H6N2
CHEBI:34385
CHEMBL284348
CID1727
Caswell No. 038
Compound 1861
D015761
D04127
Dalfampridine
DivK1c_000572
EINECS 207-987-9
EL-970
EPA Pesticide Chemical Code 069201
EU-0100032
FT-0083754
Fampridina
Fampridine
Fampridine (USAN/INN)
Fampridine SR
Fampridine [USAN:INN]
Fampridine-PR
Fampridine-SR
Fampridinum
Fampyra
HC150041
HMS1361O04
HMS1791O04
HMS1921H15
HMS1989O04
HMS2092F05
HMS501M14
HSDB 6037
IDI1_000572
IDI1_034032
InChI=1/C5H6N2/c6-5-1-3-7-4-2-5/h1-4H,(H2,6,7
 
KBio1_000572
KBio2_000282
KBio2_000635
KBio2_002850
KBio2_003203
KBio2_005418
KBio2_005771
KBio3_000563
KBio3_000564
KBio3_001888
KBioGR_000282
KBioGR_001505
KBioSS_000282
KBioSS_000635
LS-130202
Lopac-A-0152
Lopac0_000032
MLS000069400
Mi-W-3
MolPort-000-146-022
N07XX07
NCGC00015009-01
NCGC00015009-03
NCGC00015009-12
NCGC00024890-01
NCGC00024890-02
NCGC00024890-03
NCGC00024890-04
NCGC00024890-05
NCGC00024890-06
NCGC00024890-07
NCGC00024890-08
NCGC00024890-09
NCGC00024890-10
NINDS_000572
NSC 15041
NSC15041
Neurelan
Neurelan (TN)
P-Aminopyridine
PYRIDINE,4-AMINO
Philips 1861
Phillips 1861
Pimadin (free base)
Prc 1237
Pymadin
Pymadine
RCRA waste no. P008
SDCCGMLS-0066228.P001
SMR000058211
SPBio_001486
SPECTRUM1501130
STK298717
Spectrum2_001413
Spectrum3_000914
Spectrum4_001013
Spectrum5_001501
Spectrum_000155
Sustained Release, 4-Aminopyridine
TL8003344
Tocris-0940
UNII-BH3B64OKL9
UPCMLD-DP125
UPCMLD-DP125:001
VMI 10-3
VMI 103
VMI-10-3
VMI-103
VMI103
WLN: T6NJ DZ
[J.Pharmacol.Exp.Ther. 275:864 (1995)]
gamma-Aminopyridine
nchem.892-comp4
p-Aminopyridine
p-Aminopyridine [UN2671] [Poison]
p-Aminopyridine [UN2671] [Poison]
pyridin-4-amine
pyridin-4-ylamine
23,4-diaminopyridinePhase 319
3Potassium Channel BlockersPhase 3151
4
PseudoephedrineapprovedPhase 1, Phase 244790-82-47028
Synonyms:
( )-Pseudoephedrine
(+)-(1S,2S)-Pseudoephedrine
(+)-Pseudoephedrine
(+)-Psi-ephedrine
(+)-psi-Ephedrine
(+)-threo-Ephedrine
(1S,2S)-(+)-Pseudoephedrine
(1S,2S)-2-(methylamino)-1-phenylpropan-1-ol
(1S,2S)-2-Methylamino-1-phenyl-1-propanol
(1S,2S)-Pseudoephedrine
(1S,2S)-Pseudoephedrine, polymer-bound
1-Ephedrine
2-(Methylamino)-1-phenyl-1-propanol
287636_ALDRICH
304-87-0
30987-59-8
37577-31-4
649031_ALDRICH
90-82-4
AC-20292
AC1L1NUA
Acunaso
Acunaso (TN)
Afrinol
BIDD:GT0817
BRD-K84175871-003-02-2
BSPBio_003261
Balminil Decongestant Syrup
Benylin Decongestant
Benzenemethanol, alpha-((1S)-1-(methylamino)ethyl)-, (alpha-S)- (9CI)
Besan
C02765
C10H15NO
CHEBI:51209
CHEMBL1590
CID7028
CPD-9954
Cenafed
D-Isoephedrine
D-Pseudoephedrine
D-Pseudoephedrine base
D-Psi-2-Methylamino-1-phenyl-1-propanol
D-Psi-2-methylamino-1-phenyl-1-propanol
D-Psi-Ephedrine
D-Psi-ephedrine
D08449
DB00852
Decofed
Dimetapp Decongestant
Dimetapp Decongestant Pediatric Drops
DivK1c_000451
Drixoral N.D.
Drixoral Nasal Decongestant
EINECS 202-018-6
Efidac 24 Pseudoephedrine Hcl
Efidac/24
Eltor 120
Ephed 60
Ephedrine
Genaphed
HSDB 3177
I01-8928
IDI1_000451
Isoephedrine
KBio1_000451
 
KBio2_001358
KBio2_003926
KBio2_006494
KBio3_002762
KBioGR_001763
KBioSS_001358
L(+)-Psi-Ephedrine
L(+)-Psi-ephedrine
L(+)-psi-Ephedrine
L-(+)-Pseudoephedrine
LS-125922
Lopac-E-3250
Maxenal
MolPort-001-684-474
Myfedrine
NCGC00015408-01
NCGC00178180-01
NCI60_002955
NINDS_000451
Neodurasina
Neodurasina (TN)
Novafed
PDSP1_001347
PSEUDOEPHEDRINE
Pedia Care
Pseudo
Pseudo 60's
Pseudo-12
Pseudoefedrina
Pseudoefedrina [INN-Spanish]
Pseudoephedrine
Pseudoephedrine (D)
Pseudoephedrine (INN)
Pseudoephedrine D-form
Pseudoephedrine Ephedrine
Pseudoephedrine Hydrochloride
Pseudoephedrine [INN:BAN]
Pseudoephedrine d-form
Pseudoephedrine hydrochloride
Pseudoephedrine sulfate
Pseudoephedrinum
Pseudoephedrinum [INN-Latin]
Psi-ephedrin
Psi-ephedrine
Robidrine
SPBio_001365
STOCK1N-42675
Spectrum2_001303
Spectrum3_001771
Spectrum4_001162
Spectrum5_000650
Spectrum_000878
Sudafed
Sudafed Decongestant
Sudafed Decongestant 12 Hour
Sudafed Decongestant Extra Strength
Suphedrine
Triaminic AM Decongestant Formula
Triaminic Infant Oral Decongestant Drops
UNII-7CUC9DDI9F
alpha-(1-(Methylamino)ethyl)benzyl alcohol
d-Isoephedrine
d-Pseudoephedrine
d-psi-2-Methylamino-1-phenyl-1-propanol
d-psi-Ephedrine
trans-Ephedrine
5
EphedrineapprovedPhase 1, Phase 2447299-42-39294
Synonyms:
( )-Pseudoephedrine
(+)-Ephedrin
(+)-Ephedrine
(+)-Pseudoephedrine
(+)-psi-Ephedrine
(+)-threo-Ephedrine
(+-)-Ephedrine
(-)-Ephedrine
(-)-Pseudoephedrine
(-)-psi-Ephedrine
(-)-threo-Ephedrine
(1R,2R)-Ephedrine
(1R,2S)-1-Phenyl-1-hydroxy-2-methylaminopropane
(1S,2R)-Ephedrine
(L)-EPHEDRINE
--EPHEDRINE
1-EPHEDRINE
1-Sedrin
134910_ALDRICH
287636_ALDRICH
287644_ALDRICH
299-42-3
304-87-0
30987-59-8
321-96-0
321-97-1
321-98-2
37577-31-4
38732-95-5
45261_FLUKA
4607-45-8
50-98-6
50906-05-3
53214-57-6
649031_ALDRICH
6912-63-6
7009-81-6
90-82-4
968-63-8
AC-20231
AC-20292
AC1L1JGK
AC1L1NUA
AC1L1RFA
AC1L1SR1
AC1L1T31
AC1L1Y3M
AC1O8JUO
AC1Q3XJE
AC1Q3XJM
AC1Q3XJN
AC1Q59F5
AC1Q7701
AI3-02761
AKOS000268842
AR-1A0126
AR-1I7143
Acunaso
Acunaso (TN)
Afrinol
Ambap299-42-3
BIDD:GT0817
BRN 3197916
BRN 4231286
BSPBio_001946
BSPBio_001968
BSPBio_003261
Benylin Decongestant
Besan
Biophedrin
C01575
C02765
C10H15NO
CHEBI:15407
CHEBI:51209
CHEMBL1590
CHEMBL211456
CHEMBL357080
CID11972440
CID5032
CID62946
CID6710657
CID7028
CID8650
CID9294
CID9457
CPD-9954
CPDD 0049
Cenafed
D00124
D08449
DB00852
DB01364
Decofed
DivK1c_000181
DivK1c_000451
DivK1c_000461
Drixoral N.D.
EINECS 202-017-0
EINECS 202-018-6
EINECS 206-080-5
EINECS 206-292-8
EINECS 206-293-3
Eciphin
Efedrin
Efidac/24
Eltor 120
Ephedral
Ephedremal
Ephedrin
Ephedrine
Ephedrine (TN)
Ephedrine (USP)
Ephedrine [USAN:BAN]
Ephedrine l-form
Ephedrital
Ephedrol
Ephedrosan
Ephedrotal
Ephedsol
Ephendronal
Ephoxamin
Fedrin
Genaphed
HSDB 3072
HSDB 3177
I-Sedrin
I01-3584
I01-8925
I01-8928
 
IDI1_000181
IDI1_000451
IDI1_000461
Isoephedrine
Jsp005664
KBio1_000181
KBio1_000451
KBio1_000461
KBio2_001358
KBio2_001500
KBio2_003926
KBio2_004068
KBio2_006494
KBio2_006636
KBio3_001188
KBio3_001446
KBio3_002762
KBioGR_001013
KBioGR_001763
KBioSS_001358
KBioSS_001500
KST-1A9168
Kratedyn
L(+)-psi-Ephedrine
L(-)-Ephedrine
L-(+)-Ephedrine
L-(-)-Ephedrine
L-Ephedrine
L-erythro-2-(Methylamino)-1-phenylpropan-1-ol
L000968
LS-125921
LS-125922
LS-43083
LS-63961
LS-63962
LS-63963
LS-63964
Lexofedrin
Lopac-E-3250
Lopac0_000501
MLS000069657
Manadrin
Mandrin
Maxenal
MolPort-001-684-474
MolPort-001-684-477
MolPort-001-684-478
MolPort-001-684-479
MolPort-001-769-085
Myfedrine
NCGC00015408-01
NCGC00015408-02
NCGC00162174-01
NCGC00178180-01
NCGC00178889-01
NCI-C55652
NCI60_002955
NINDS_000181
NINDS_000451
NINDS_000461
NSC 165609
NSC 170951
NSC 8971
NSC165609
NSC170951
NSC8971
Nasol
Neodurasina
Neodurasina (TN)
Oprea1_287330
PDSP1_000168
PDSP1_001106
PDSP1_001343
PDSP1_001345
PDSP1_001346
PDSP1_001347
PDSP2_000167
PDSP2_001090
PDSP2_001327
PDSP2_001329
PDSP2_001330
PDSP2_001331
PSEUDOEPHEDRINE
Pedia Care
Pseudo
Pseudo 60's
Pseudo-12
Pseudoefedrina
Pseudoephedrine (D)
Pseudoephedrinum
Psi-ephedrin
Psi-ephedrine
Robidrine
SMR000059174
SPBio_000214
SPBio_001365
SPBio_001377
ST023802
STK367993
STOCK1N-42675
Sanedrine
Spectrum2_000137
Spectrum2_001303
Spectrum2_001309
Spectrum3_000414
Spectrum3_000563
Spectrum3_001771
Spectrum4_000497
Spectrum4_001162
Spectrum5_000650
Spectrum5_000879
Spectrum5_001106
Spectrum_000878
Spectrum_001020
Sudafed
Sudafed Decongestant
UNII-03VRY66076
UNII-7CUC9DDI9F
UNII-GN83C131XS
Vencipon
WLN: QYR & Y1 & M1
WLN: QYR&Y1&M1
Zephrol
d-Ephedrine
d-Isoephedrine
d-Pseudoephedrine
d-psi-Ephedrine
l-Ephedrine
l-Pseudoephedrine
racephedrine
trans-Ephedrine
6Respiratory System AgentsPhase 1, Phase 23931
7Peripheral Nervous System AgentsPhase 1, Phase 218510
8Neurotransmitter AgentsPhase 1, Phase 214795
9Bronchodilator AgentsPhase 1, Phase 22377
10Adrenergic AgentsPhase 1, Phase 24204
11Anti-Asthmatic AgentsPhase 1, Phase 22796
12Nasal DecongestantsPhase 1, Phase 2414
13Vasoconstrictor AgentsPhase 1, Phase 21303
14Central Nervous System StimulantsPhase 1, Phase 21721
15Tocolytic AgentsPhase 1561
16AlbuterolPhase 1384
17Adrenergic beta-2 Receptor AgonistsPhase 1741
18Adrenergic AgonistsPhase 12331
19Adrenergic beta-AgonistsPhase 11266

Interventional clinical trials:

idNameStatusNCT IDPhase
1Amifampridine Phosphate for the Treatment of Pediatric Congenital Myasthenic SyndromesRecruitingNCT02562066Phase 3
2Ephedrine for the Treatment of Congenital MyastheniaEnrolling by invitationNCT00541216Phase 1, Phase 2
3Efficacy of Albuterol in the Treatment of Congenital Myasthenic SyndromesCompletedNCT01203592Phase 1
4Pregnancy Outcomes in Congenital Myasthenie SyndromeCompletedNCT01474980
53,4-Diaminopyridine Use in Lambert-Eaton Myasthenic Syndrome(LEMS) and Congenital Myasthenic Syndromes (CMS)RecruitingNCT00872950
6Expanded Access Study Amifampridine Phosphate in Lambert-Eaton Myasthenic Syndrome (LEMS), Congenital Myasthenic Syndrome (CMS), or Downbeat Nystagmus PatientsAvailableNCT02189720
73,4-Diaminopyridine for Lambert-Eaton Myasthenic Syndrome (LEMS) and Congenital Myasthenia (CM)AvailableNCT02012933
8Treatment Use of 3,4-DiaminopyridineAvailableNCT01765140
9Treatment of Lambert-Eaton Myasthenic Syndrome (LEMS) With 3, 4 DAPNo longer availableNCT01378546

Search NIH Clinical Center for Congenital Myasthenic Syndrome


Cochrane evidence based reviews: myasthenic syndromes, congenital

Genetic Tests for Congenital Myasthenic Syndrome

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Genetic tests related to Congenital Myasthenic Syndrome:

id Genetic test Affiliating Genes
1 Congenital Myasthenic Syndromes22 SCN4A

Anatomical Context for Congenital Myasthenic Syndrome

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MalaCards organs/tissues related to Congenital Myasthenic Syndrome:

33
Eye, Skeletal muscle, Lung, Heart, Breast, Brain, B cells

Animal Models for Congenital Myasthenic Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Congenital Myasthenic Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.9AGRN, CHRNE, DOK7, MUSK, RAPSN, SCN4A
2MP:00053698.5AGRN, CHAT, CHRNE, DOK7, MUSK, RAPSN
3MP:00036317.7AGRN, CHAT, CHRNA1, CHRNB1, CHRNE, DOK7
4MP:00107687.0AGRN, CHAT, CHRNA1, CHRNE, DOK7, DPAGT1

Publications for Congenital Myasthenic Syndrome

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Articles related to Congenital Myasthenic Syndrome:

(show top 50)    (show all 182)
idTitleAuthorsYear
1
Is the serum creatine kinase level elevated in congenital myasthenic syndrome? (27151963)
2016
2
A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis. (26659129)
2016
3
Congenital myasthenic syndrome due to novel CHAT mutations in an ethnic kadazandusun family. (26789281)
2016
4
A COLQ Missense Mutation in Sphynx and Devon Rex Cats with Congenital Myasthenic Syndrome. (26327126)
2015
5
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. (26133662)
2015
6
Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome. (25707578)
2015
7
Use of Next-Generation Sequencing as a Diagnostic Tool forA Congenital Myasthenic Syndrome. (25194721)
2014
8
Familial Dok7 congenital myasthenic syndrome responsive to salbutamol. (25033858)
2014
9
Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation. (23790237)
2013
10
Congenital myasthenic syndromes and transient myasthenia gravis. (23909021)
2013
11
Quinine sulfate as a therapeutic option in a patient with slow channel congenital myasthenic syndrome. (23688972)
2013
12
A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance. (22382357)
2012
13
A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome. (22326364)
2012
14
Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia. (21150643)
2011
15
Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship. (21316238)
2011
16
Motor endplate remodeling in some cases with congenital myasthenic syndrome. (20925004)
2010
17
Congenital myasthenic syndrome with episodic apnea. (19520274)
2009
18
Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome. (19251977)
2009
19
Electrophysiological study in synaptic congenital myasthenic syndrome: end-plate acetylcholinesterase deficiency. (19623452)
2009
20
Potential role of caveolin-1-positive domains in the regulation of the acetylcholine receptor's activatable pool: implications in the pathogenesis of a novel congenital myasthenic syndrome. (18836288)
2008
21
Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred. (17355552)
2007
22
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes. (17439981)
2007
23
Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine. (16621558)
2006
24
CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn. (16916845)
2006
25
Towards the molecular elucidation of congenital myasthenic syndromes: identification of mutations in MuSK. (16550915)
2005
26
An Iranian family with congenital myasthenic syndrome caused by a novel acetylcholine receptor mutation (CHRNE K171X). (15965226)
2005
27
MUSK, a new target for mutations causing congenital myasthenic syndrome. (15496425)
2004
28
Congenital myasthenic syndrome due to rapsyn deficiency: three cases with arthrogryposis and bulbar symptoms. (15328566)
2004
29
The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder. (15286164)
2004
30
Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome. (15079006)
2004
31
Congenital myasthenic syndromes: progress over the past decade. (12508290)
2003
32
Treatment of slow-channel congenital myasthenic syndrome with fluoxetine. (12771277)
2003
33
Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation. (12756141)
2003
34
Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction. (14592871)
2003
35
Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes. (14592868)
2003
36
Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes. (12141316)
2002
37
Congenital myasthenic syndrome (CMS) in three European kinships due to a novel splice mutation (IVS7 - 2 A/G) in the epsilon acetylcholine receptor (AChR) subunit gene. (12536367)
2002
38
Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome. (10211467)
1999
39
Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome. (10514102)
1999
40
Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor epsilon subunit gene. (10382905)
1999
41
AChR channel blockade by quinidine sulfate reduces channel open duration in the slow-channel congenital myasthenic syndrome. (9668240)
1998
42
Safety and efficacy of quinidine sulfate in slow-channel congenital myasthenic syndrome. (9668241)
1998
43
Congenital myasthenic syndromes in two kinships with end-plate acetylcholine receptor and utrophin deficiency. (9443457)
1998
44
Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations. (9158150)
1997
45
Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. (8755487)
1996
46
Multiple system organ failure, intermediate syndrome, congenital myasthenic syndrome, and anticholinesterase treatment: the linkage is puzzling. (8618263)
1996
47
Newly recognized congenital myasthenic syndrome associated with high conductance and fast closure of the acetylcholine receptor channel. (7685992)
1993
48
Congenital myasthenic syndrome attributed to an abnormal interaction of acetylcholine with its receptor. (8357189)
1993
49
Congenital myasthenic syndrome associated with paucity of synaptic vesicles and reduced quantal release. (8395161)
1993
50
Single fiber EMG in a congenital myasthenic syndrome associated with facial malformations. (8429842)
1993

Variations for Congenital Myasthenic Syndrome

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Clinvar genetic disease variations for Congenital Myasthenic Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DOK7NM_173660.4(DOK7): c.1124_1127dupTGCC (p.Ala378Serfs)duplicationPathogenicrs606231128GRCh38Chr 4, 3493110: 3493113

Expression for genes affiliated with Congenital Myasthenic Syndrome

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Search GEO for disease gene expression data for Congenital Myasthenic Syndrome.

GO Terms for genes affiliated with Congenital Myasthenic Syndrome

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Biological processes related to Congenital Myasthenic Syndrome according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1cation transportGO:00068129.7CHRNA1, CHRND, SCN4A
2memoryGO:00076139.6CHAT, MUSK
3muscle contractionGO:00069369.5CHRNB1, CHRND, CHRNE, SCN4A
4neuromuscular synaptic transmissionGO:00072749.3CHRNA1, CHRNB1, CHRND, CHRNE
5ion transportGO:00068119.2CHRNA1, CHRND, CHRNE, SCN4A
6transportGO:00068109.2CHRNA1, CHRNB1, CHRND
7cation transmembrane transportGO:00986559.0CHRNA1, CHRNB1, CHRND, CHRNE
8synaptic transmission, cholinergicGO:00072718.9CHRNA1, CHRNB1, CHRND, CHRNE
9signal transductionGO:00071658.2AGRN, CHRNA1, CHRNB1, CHRND, CHRNE

Molecular functions related to Congenital Myasthenic Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular ligand-gated ion channel activityGO:00052309.0CHRNA1, CHRNB1, CHRND
2acetylcholine receptor activityGO:00154648.6CHRNA1, CHRNB1, CHRND, CHRNE

Sources for Congenital Myasthenic Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet