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: Inherited Neuromuscular Diseases of Childhood
  • Journal: Seminars in neurology
  • Treatment Used: Targeted Treatments
  • Number of Patients: 0
  • Published —
This review highlights advances and emerging targeted therapies for Duchenne muscular dystrophy and centronuclear myopathy, while also covering enzyme replacement therapy and small molecule-based targeted therapies for conditions such as Pompe's disease and congenital myasthenic syndromes.
  • 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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