Electrophysiological study of neuromuscular junction in congenital myasthenic syndromes, congenital myopathies, and chronic progressive external ophthalmoplegia

Congenital myasthenic syndrome (CMS) comprises inherited diseases in which the safety margin of neuromuscular transmission is impaired [1]. It is characterized by fatigue and fluctuating or fixed weakness in extraocular, facial, bulbar, truncal, respiratory, or limb muscles [1,2]. Weakness typically begins in young children but can also appear in teens or adults. The clinical severity of CMS ranges from mild to disabling weakness, sometimes with respiratory insufficiency and premature death [2,3].

Source: Neuromuscular Disorders - October 13, 2020 Category: Neurology Authors: Vitor Marques Caldas, Carlos Otto Heise, Jo ão Aris Kouyoumdjian, Antônio Alberto Zambon, André Macedo Serafim Silva, Eduardo de Paula Estephan, Edmar Zanoteli Source Type: research