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Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) Summary

Description: 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 Show All >>

Networked: 251 relevant articles (9 outcomes, 14 trials/studies) for this Disease

Key Drugs and Agents for Congenital Myasthenic Syndromes

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Albuterol (Salbutamol) : 4 outcomes 2 studies in 12 results : FDA 92 Generic
  2. Ephedrine : 3 outcomes in 10 results : FDA 20 Generic
  3. Quinidine (Chinidin) : 2 outcomes in 5 results : FDA 49 Generic
  4. musk : 1 outcome in 21 results : IBA
  5. Fluoxetine (Prozac) : 1 outcome in 5 results : FDA 51 Generic
  6. Phosphotransferases (Kinase) : 1 outcome in 4 results : IBA
  7. Protein-Tyrosine Kinases (Tyrosine Kinase) : 1 outcome in 3 results : IBA
  8. tyrosine receptor (receptor, tyrosine) : 1 outcome in 3 results : IBA
  9. Pseudoephedrine : 1 outcome in 1 result : FDA 68 Generic
  10. quinoline : 1 outcome in 1 result : IBA
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Diseases Related to Congenital Myasthenic Syndromes

  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)
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Key Therapies for Congenital Myasthenic Syndromes

Efficacy Chart >>
  1. Thymectomy : 1 outcome in 1 result
  2. Microelectrodes : 1 study in 1 result
  3. Orthognathic Surgery : 1 result
  4. Minor Surgical Procedures (Minor Surgery) : 1 result
  5. Positive-Pressure Respiration (PEEP) : 1 result
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