Congenital myasthenic syndromes (CMS) are heterogeneous inherited disorders of neuromuscular transmission characterized by fatigable weakness of the skeletle muscle with onset at or shortly after birth or in early childhood. In CMS, the safety margin of neuromuscular transmission is compromised, and clinical evaluation should involve detalied electromyographic (EMG) studies to demonstrate a defect in neuromuscular transmission. Severity and progression can vary. Major findings in the neonatal onset subtype include feeding difficulties, poor suck and cry, choking spells, ptosis, facial, bulbar and generalized weakness. Later childhood onset subtypes show abnormal muscle fatiability, motor milestones may be delayed, ptosis, and fixed or fluctuating extraocular muscle weakness.
Our Congenital Myasthenic Syndromes Sequencing Panel includes all of the following 18 genes: ALG14, ALG2, AGRN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, DPAGT1, GFPT1, LRP4, MUSK, PREPL, RAPSN, SCN4A, SYT2.
Any gene in the Congenital Myasthenic Syndrome panel can also be ordered individually. Please contact us directly for cost and CPT code information.