Congenital myasthenic syndromes in two male siblings born to healthy consanguineous parents: a case report

Abstract

Purpose

Congenital myasthenic syndromes include a wide range of early-onset genetic neuromuscular transmission disorders. Mutations in any one of genes coding for proteins related to the neuromuscular junction synaptic transmission function, can lead to such rare recessive inherited disorders.

Case Presentation

We present a report on recurrence of congenital myasthenic syndromes in two consecutive male siblings who were diagnosed on the basis of clinical findings.

Conclusion

To minimize risks for having affected child/children with autosomal recessive disorders, consanguineous couples must undergo genetic risk assessment, counseling, and screening.

Keywords:

• Congenital myasthenic syndromes
• motor end plate
• neuromuscular junction
• synaptic transmission

Acknowledgement

Special thanks go to the Valiasr Hospital healthcare workers and all other staff.

Authors’ contributions

MM, AM, and KVK were the major contributors in patients diagnosis. AM and PM recruited patients and performed clinical assessment. KVK wrote the manuscript. All authors contributed to checking the manuscript and approved the final manuscript.

Consent to participate

Consent from the patient has been obtained.

Disclosure statement

The authors report no conflict of interest.

Ethics statement

We confirm that we have read the Journal’s position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.

Data availability statement

The data that supports the findings of this study are available within the article.

Additional information

Funding

This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.