Congenital myasthenic syndrome: a tale of two siblings

Area of Science:

• Neurology
• Genetics
• Molecular Biology

Background:

• Congenital myasthenic syndromes (CMS) are rare genetic disorders affecting neuromuscular junctions.
• Traditional treatments like anticholinesterase inhibitors are often ineffective and can worsen symptoms in some CMS variants.

Observation:

• This report details a unique case of CMS in a patient with compound heterozygous mutations in the CHRNE and COLQ genes.
• The patient presented with symptoms characteristic of CMS.

Findings:

• The patient did not exhibit improvement during a neostigmine test, a standard diagnostic procedure for myasthenia gravis.
• Remarkably, the patient responded positively to oral salbutamol treatment, indicating a potential therapeutic avenue.

Implications:

• This case highlights the heterogeneity of CMS and the limitations of traditional diagnostic and treatment approaches.
• Salbutamol may represent a viable therapeutic option for specific genetic subtypes of CMS, warranting further investigation.