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Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)

A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)
Also Known As:
Myasthenia Gravis, Congenital; Myasthenic Syndromes, Congenital; Congenital Myasthenia; Congenital Myasthenia Gravis; Congenital Myasthenic Syndrome; Congenital Myasthenic Syndromes, Postsynaptic; Congenital Myasthenic Syndromes, Presynaptic; Congenital Slow-Channel Myasthenic Syndromes; Myasthenic Syndrome, Congenital, Slow-Channel; Postsynaptic Congenital Myasthenic Syndromes; Presynaptic Congenital Myasthenic Syndromes; Slow-Channel Congenital Myasthenic Syndromes; Congenital Myasthenias; Congenital Slow Channel Myasthenic Syndrome; Congenital Slow Channel Myasthenic Syndromes; Gravi, Congenital Myasthenia; Myasthenia, Congenital; Myasthenias, Congenital; Myasthenic Syndrome, Congenital; Slow Channel Congenital Myasthenic Syndrome; Slow Channel Congenital Myasthenic Syndromes; Syndrome, Congenital Myasthenic; Syndromes, Congenital Myasthenic; Congenital Slow-Channel Myasthenic Syndrome; Myasthenic Syndromes, Congenital, Slow Channel; Postsynaptic Congenital Myasthenic Syndrome; Presynaptic Congenital Myasthenic Syndrome; Slow-Channel Congenital Myasthenic Syndrome
Networked: 467 relevant articles (14 outcomes, 21 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital)
2. Thymoma (Thymic Carcinoma)
3. Muscular Diseases (Myopathy)
4. Type 2 Episodic Ataxia
5. Myasthenia Gravis

Experts

1. Engel, Andrew G: 35 articles (02/2022 - 01/2002)
2. Beeson, David: 33 articles (10/2021 - 11/2002)
3. Ohno, Kinji: 28 articles (01/2021 - 01/2002)
4. Lochmüller, Hanns: 23 articles (03/2021 - 05/2002)
5. Shen, Xin-Ming: 16 articles (11/2020 - 04/2002)
6. Maselli, Ricardo A: 13 articles (01/2021 - 01/2002)
7. Eymard, Bruno: 13 articles (12/2020 - 03/2003)
8. Abicht, Angela: 12 articles (05/2019 - 05/2002)
9. Hantaï, Daniel: 12 articles (08/2017 - 03/2003)
10. Palace, Jacqueline: 11 articles (01/2021 - 06/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Congenital Myasthenic Syndromes:
1. Albuterol (Salbutamol)FDA LinkGeneric
2. EphedrineFDA LinkGeneric
3. Fluoxetine (Prozac)FDA LinkGeneric
4. Quinidine (Chinidin)FDA LinkGeneric
5. Cholinergic ReceptorsIBA
6. Proteins (Proteins, Gene)FDA Link
7. muskIBA
8. Receptor Protein-Tyrosine Kinases (Tyrosine Kinase Receptors)IBA
9. PseudoephedrineFDA LinkGeneric
10. Protein-Tyrosine Kinases (Tyrosine Kinase)IBA

Therapies and Procedures

1. Therapeutics
2. Thymectomy
3. Microelectrodes
4. Immunotherapy
5. Orthognathic Surgery