BEYOND ASTHMA “THE ROLE OF SALBUTAMOL IN NEUROMUSCLAR DISORDER”

Congenital myasthenic syndrome is a group of heterogeneous genetic disorder affecting the neuromuscular junction which leads to muscle weakness and fatigue. It is rare condition which occur due to genotype and phenotypical changes that mainly affecting neuromuscular transmission. Deficiency or mutation that occur in Musk and DOK7 protein mainly cause congenital myasthenic syndrome. There is no proper standardized therapy for congenital
myasthenic syndrome. Identification of subtypes in congenital myasthenic syndromes will improve the treatment of the patient. Beta 2 adrenergic agonist class of drug salbutamol is mainly used to strengthen muscle weakness and also improves the stamina of the muscle which helps the patient of neuromuscular disorder to walk independently. Salbutamol works effectively in the therapy of patient with neuromuscular disorder mainly in congenital myasthenic syndrome. It cause gradual improvement in patient in their muscle strength, post synaptic defects and also in acetylcholine receptor. This review gives overview of Therapy, classification and mutations that occur in neuromuscular disorder.

KEYWORDS: Congenital myasthenic syndrome, Neuromuscular junction, Mutation, salbutamol, MUSK, DOK7 Therapy