ICNC Abstracts, ICNC 2018

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Impact of genetic results on treatment of CONGENITAL MYASTHENIC SYNDROME (CMS)
RINI KOTHARI, LOKESH LINGAPPA, RAMESH KONANKI, NIKIT SHAH, BINDU MADHAVI PARICHURI, SMILU MOHANLAL

Last modified: 2018-09-09

Abstract


INTRODUCTION : CMS is a group of diverse inherited disorders of neuromuscular transmission associated with weakness and fatigability on exertion. We reviewed CMS cases for better understanding of treatment in light of genetic information.

METHOD : We reviewed data of 17 patients enrolled (2015 -2018) at our centre to study clinical characteristics, genetic results and treatment outcomes of children with CMS.

RESULTS : There were 10 girls and 7 boys, 15 were born of consanguineous marriage and 12 had positive family history. Age at onset was from birth to 24 months except children with GFPT1 who had onset at 4-13 years. The common clinical features were delayed motor milestones (9) , ptosis (7), ophthalmoplegia (14),proximal muscle weakness(14) ,fatigability on exertion with diurnal variation (16) and neonatal symptoms (feeding and respiratory difficulties) were present in 3 .The genetic mutations were CHRNE (9) ,COLQ (3), GFPT 1 (3) ,CHRND (1) and CHRNA (1).Three children (1 COLQ, 1 CHRNE ,1 CHRNA ) required nocturnal ventilation . 13/15 had >20% decremental response on repetitive nerve stimulation test, none had double response on single nerve stimuli .Children with CHRNE had good response to pyridostigmine, partial response in 3 children (1 CHRNE,1 CHRND, 1 COLQ) and COLQ(2) worsened with it. Salbutamol was used in 6 patients with improvement in 4 ( 3 COLQ ,1 CHRNE).

CONCLUSION : The most common mutation was CHRNE. 3/17 required nocturnal ventilation.Genetic results helped in selection of medications used in our CMS cohort.


Keywords


CONGENITAL MYASTHENIC SYNDROME; GENETIC MUTATIONS; PYRIDOSTIGMINE; SALBUTAMOL; VENTILATION

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