The value of salbutamol in a form of CMS

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Clinicians report the case of an Egyptian brother and sister diagnosed with congenital myasthenic syndrome (CMS) linked to the gene encoding the acetylcholine receptor epsilon subunit (CHRNE).

  • The older brother had ocular signs and very marked muscle weakness to the point of losing the ability to walk at the age of 6 years and of presenting a significant decrease in vital capacity (VC) in the supine position.
  • The sister was less severely affected but very fatigued.
  • The response to anticholinesterase drugs was poor, whereas the addition of salbutamol allowed the elder to recover walking and improve his VC.

Thus, SMC-CHRNE appears to respond positively to salbutamol, as do other SMCs (COLQ, DOK7).

 

Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings. Gómez-García de la Banda M, Simental-Aldaba E, Fahmy N et al. Front Neurol. 2022 Jun 2;13:909715.

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