Open AccessCongenital myasthenic syndromes: Natural history and long-term prognosis
Author(s) -
Sujit Jagtap,
Kuruvilla Abraham,
C Sarada,
Nair
Publication year - 2013
Publication title -
annals of indian academy of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.427
H-Index - 31
eISSN - 1998-3549
pISSN - 0972-2327
DOI - 10.4103/0972-2327.116918
Subject(s) - medicine , repetitive nerve stimulation , ptosis , natural history , pyridostigmine , pediatrics , myasthenia gravis , presentation (obstetrics) , neuromuscular transmission , congenital myasthenic syndrome , neostigmine , neurology , weakness , age of onset , surgery , disease , acetylcholine receptor , receptor , psychiatry
Congenital myasthenia syndrome (CMS) is a rare, heterogeneous group of genetically determined, disorder of neuromuscular transmission. They have a varied presentation and progression and very few studies have addressed the natural history. Aim of the present study is to describe the clinical profile and natural history of patients with CMS.