Latest Advances

  • Condition: Late-Onset Congenital Myasthenic Syndrome due to Heterozygous DOK7 Mutation
  • Journal: Neuromuscular disorders : NMD
  • Treatment Used: Steroids, Intravenous Human Immunoglobulin, and Acetylcholinesterase Inhibitors, and Targeted Therapies
  • Number of Patients: 1
  • Published —
This case report discusses a 67-year-old female patient diagnosed with late-onset congenital myasthenic syndrome due to a heterozygous DOK7 mutation treated with steroids, intravenous human immunoglobulin, and acetylcholinesterase inhibitors with no response.
  • Condition: Myasthenia Gravis (MG) and Congenital Myasthenic Syndromes
  • Journal: Continuum (Minneapolis, Minn.)
  • Treatment Used: Prednisone and Thymectomy
  • Number of Patients: 0
  • Published —
This article reviews the importance of prompt recognition of the typical signs and symptoms, best tests to confirm the diagnosis, currently available acute and chronic treatment modalities, the role of thymectomy, and the natural history of myasthenia gravis (MG).
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