This report of a case of congenital myasthenia gravis and a study of the patient's family are presented not only because of their intrinsic interest, but also because they may help to elucidate this rare condition and to establish it as a disorder of infancy. The accounts of myasthenia gravis in the textbooks do not usually include references to the condition in infancy. The maximal incidence i...

Aim: Myasthenia is a rare paediatric disease. Traditionally, the Tensilon test, neurophysiological (NP) studies and serology have been used in its diagnosis. This first study in children was to clarify the role and safety of the Tensilon test in the initial diagnoses of myasthenia when compared with, and in association with NP studies such as stimulated single fibre EMG (sSFEMG) and repetitive ...

This report of a case of congenital myasthenia gravis and a study of the patient's family are presented not only because of their intrinsic interest, but also because they may help to elucidate this rare condition and to establish it as a disorder of infancy. The accounts of myasthenia gravis in the textbooks do not usually include references to the condition in infancy. The maximal incidence i...

BACKGROUND We present the findings from the largest hospital-based studies on myasthenia gravis from India, using data collected over a period of 43 years from the Neurology Department in a tertiary referral center in India. OBJECTIVES To study the clinical presentation, age at onset, gender distribution, serological status and thymic pathology in patients with myasthenia gravis. MATERIALS ...

Over 60 mutations of SCN4A encoding the NaV1.4 sodium channel of skeletal muscle have been identified in patients with myotonia, periodic paralysis, myasthenia, or congenital myopathy. Most mutations are missense with gain-of-function defects that cause susceptibility to myotonia or periodic paralysis. Loss-of-function from enhanced inactivation or null alleles is rare and has been associated w...

Myasthenia gravis (MG) is an autoimmune disease with antibodies directed against the acetylcholine receptor at the neuromuscular junction (NMJ). Anesthetists have a special interest in myasthenia gravis because of its interaction with various anesthetic agents and because many myasthenics require a thymectomy to control their disease. Much has been written about the critical care management and...