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).
