title: Schwartz-Jampel syndrome.
abstract: Schwartz-Jampel syndrome is a very rare congenital myotonic syndrome with typical phenotypic and electrophysiological features. Diagnosis is made by awareness into the typical phenotypic characters.
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
authors.forename: Sadanandavalli Retnaswami
authors.initials: SR
authors.lastname: Chandra
authors.affiliation: Department of Clinical Neurosciences, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
authors.forename: Thomas Gregor
authors.initials: TG
authors.lastname: Issac
authors.affiliation: Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
authors.forename: N
authors.initials: N
authors.lastname: Gayathri
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India.
authors.forename: Sumanth
authors.initials: S
authors.lastname: Shivaram
keywords: Malignant hyperthermia; Schwartz–Jampel syndrome; myotonia