title: Efficacy of terbutaline in familial limb girdle myasthenia: Case report and review of literature.
abstract: Congenital myasthenic syndromes (CMS) are frequently misdiagnosed due to their wide clinical heterogeneity. Molecular defects in various end-plate associated proteins are being identified. Better understanding of the molecular pathogenesis and genotype-phenotype correlations can help evolve newer therapeutic targets. We present a report of two siblings with familial limb girdle myasthenia who showed significant objective clinical improvement after initiation of terbutaline. The possible mechanism of action and utility of terbutaline in the setting of CMS are described. Terbutaline is a potential treatment option in certain subtypes of CMS refractory to conventional medicines. However, long-term follow-up is required to determine the overall efficacy and safety profile.
authors: Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India.
authors: Zeyaur Rahman
authors: ZR
authors: Azad
authors: Ajith
authors: A
authors: Sivadasan
authors: Mathew
authors: M
authors: Alexander
authors: Anil Kumar B
authors: AK
authors: Patil
keywords: Congenital myasthenic syndromes; Dok-7; muscle specific tyrosine kinase; quantitative myasthenia gravis severity score; terbutaline
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