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Congenital Myasthenic Syndromes

Congenital Myasthenic Syndromes

It is defined as the genetical condition in which nerve cells at your muscle’s junction is defected. Which causes the muscle weakness.

Symptoms

Signs and symptoms include:amblyopia

  • Muscles weakness
  • Muscles atrophy
  • Ptosis
  • Reflexes decrease
  • Morning stiffness
Causes

The exact cause of the congenital cases of myasthenia gravis is unknown but mutation make the error in the DNA of cells of muscular junction.

Diagnosis

After taking medical history and conducting a physical examination to check the power and reflexes of muscles your doctor might be recommended a blood test and nerve conduction test.

Treatment

Treatment options include:

  • Immunosuppressive therapy to reduce the activation of immune system which make antibodies again nerve cells of muscular junction.
  • Acetylcholinesterase inhibitors decrease the destruction of acetylcholine will reduce the symptoms.
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