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Reader Response: PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications

Published:November 04, 2022DOI:https://doi.org/10.1016/j.nmd.2022.11.001
      We read with great interest the manuscript entitled “PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications”, published by Qashqari et al. [
      • Qashqari H
      • McNiven V
      • Gonorazky H
      • Mendoza-Londono R
      • Hassan A
      • Kulkarni T
      • et al.
      PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications.
      ].The fact that unrelated patients shared electrodiagnostic features suggestive of congenital myasthenic syndromes and treatment response to salbutamol makes a very relevant contribution to the field. However, the authors overlooked the fact there has been a previous report of a PURA syndrome patient who benefited from treatment with pyridostigmine [
      • Wyrebek R
      • DiBartolomeo M
      • Brooks S
      • Geller T
      • Crenshaw M
      • Iyadurai S.
      Hypotonic infant with PURA syndrome-related channelopathy successfully treated with pyridostigmine.
      ]. In earlier studies, it was reported that treatment with pyridostigmine was helpful for motor symptoms [
      • Wyrebek R
      • DiBartolomeo M
      • Brooks S
      • Geller T
      • Crenshaw M
      • Iyadurai S.
      Hypotonic infant with PURA syndrome-related channelopathy successfully treated with pyridostigmine.
      ]. While the report of Qashqari et al. expanded the treatment option with salbutamol, it also reported that pyridostigmine was not helpful in their patients. While this is an interesting observation, we would like to suggest what factors may have contributed to the differential treatment response.

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      Reference

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        • McNiven V
        • Gonorazky H
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        • Kulkarni T
        • et al.
        PURA syndrome: neuromuscular junction manifestations with potential therapeutic implications.
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