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.