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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 Gravis; 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 Myasthenic Syndrome; Congenital Slow Channel Myasthenic Syndromes; Gravi, Congenital Myasthenia; Myasthenic Syndrome, Congenital; Slow Channel Congenital Myasthenic Syndromes; Syndrome, Congenital Myasthenic; Syndromes, Congenital Myasthenic; Myasthenic Syndromes, Congenital, Slow Channel
Networked: 251 relevant articles (9 outcomes, 14 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Thymoma (Thymic Carcinoma)
2. Paralysis (Palsy)
3. Muscular Diseases (Myopathy)
4. Hereditary Sensory and Motor Neuropathy (Dejerine Sottas Disease)
5. Spinal Muscular Atrophy (Progressive Muscular Atrophy)

Experts

1. Beeson, David: 21 articles (12/2015 - 11/2002)
2. Engel, Andrew G: 19 articles (01/2015 - 01/2002)
3. Ohno, Kinji: 16 articles (01/2015 - 01/2002)
4. Lochmüller, Hanns: 14 articles (09/2015 - 05/2002)
5. Abicht, Angela: 10 articles (06/2015 - 05/2002)
6. Shen, Xin-Ming: 10 articles (01/2015 - 04/2002)
7. Hantaï, Daniel: 10 articles (09/2014 - 03/2003)
8. Maselli, Ricardo A: 9 articles (09/2015 - 01/2002)
9. Eymard, Bruno: 9 articles (09/2014 - 03/2003)
10. Abicht, A: 8 articles (12/2009 - 10/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Congenital Myasthenic Syndromes:
1. Albuterol (Salbutamol)FDA LinkGeneric
2. EphedrineFDA LinkGeneric
3. Quinidine (Chinidin)FDA LinkGeneric
4. muskIBA
5. Fluoxetine (Prozac)FDA LinkGeneric
6. Phosphotransferases (Kinase)IBA
7. Protein-Tyrosine Kinases (Tyrosine Kinase)IBA
8. tyrosine receptor (receptor, tyrosine)IBA
9. PseudoephedrineFDA LinkGeneric
10. quinolineIBA

Therapies and Procedures

1. Thymectomy
2. Microelectrodes
3. Orthognathic Surgery
4. Minor Surgical Procedures (Minor Surgery)
5. Positive-Pressure Respiration (PEEP)