Introduction:

Congenital Myasthenic Syndromes (CMS) are group of inherited disorders, characterized by defective neuromuscular transmission. These can be due to defects in the presynaptic, synaptic or postsynaptic levels. Depending on the genetic defect and associated kinetic properties, the treatment varies significantly.

Methods:

A retrospective, observational study was conducted at a tertiary care centre in western India, over the last 5 years. Children presenting to the neurology department with features suggestive of Congenital Myasthenia were evaluated. There clinical profile, treatment response, electro diagnostic studies and genetic results were analysed.

Results:

A total of 9 patients with Congenital Myasthenia were identified.  (3/9) were females and (6/9) were males. (2/9) patients were born out of 3^rd degree consanguineous marriage. All the patients presented in early neonatal period. Ptosis was  the most common finding (8/9),whereas feeding difficulty(3/9),respiratory insufficiency(4/9),generalised weakness(6/9) were other presentations. None had episodic apneas. Neostigmine test was positive (2/9). Repetitive nerve stimulation test was suggestive of decremental response in all. Genetic analysis could be done in (6/9) patients, out of whom 3 patients had CHRNE mutation, one patient had LAMB2 mutation, one had DPAGT1 and the other had COLQ/LAMB2 mutation. All patients responded well to pyridostigmine, except for one child with CHRNE mutation, who required further titration with other drugs like salbutamol and fluoxetine.

Conclusion:

CMS is one of the treatable inherited disorders of NM junction. Knowing the genetic mutation in CMS plays an important role in its management.