purpose: to report two sisters with congenital myasthenic syndrome (cms) masquerading as myasthenia gravis. patients and findings: two six and seven years old sisters presented with variable strabismus, ptosis, and fatigue. all symptoms were aggravated with exercise and improved with rest. intramuscular prostigmin injection decreased their symptoms. a diagnosis of cms was made according to earl...

Myasthenia gravis (MG) is an autoimmune disease in which antibodies are directed against the postsynaptic membrane of the neuromuscular junction, resulting in muscle weakness and fatigability. Juvenile myasthenia gravis (JMG) is a rare condition of childhood and has many clinical features that are distinct from adult MG. Prepubertal children in particular have a higher prevalence of isolated oc...

PURPOSE To demonstrate the sensitivity and the specificity of the ice test in the differential diagnosis of ptosis in myasthenia gravis. METHODS Prospective trial with a control group. The patients were instructed to hold a frozen ice pack on the closed ptotic eyelid. They were divided into 2 groups, with group I consisting of patients with myasthenia gravis and group II (control) consisting ...

John Newsom-Davis was born in 1932 and died, aged 74, in 2007. After national service in the Royal Air Force, he read Natural Sciences at Cambridge. Following clinical studies at the Middlesex Hospital, he began research into respiratory neurophysiology with Tom Sears at the National Hospital, Queen Square, in London, and spent 1 year with Fred Plum at Cornell University in New York. After neur...

We report a severe case of congenital myasthenia gravis in a Chinese newborn who presented with complete ptosis, severe hypotonia, dysphagia and respiratory insufficiency with recurrent apnea that required mechanical ventilatory support since birth. Routine neurophysiologic studies, including the 3-Hz repetitive stimulation test and electromyogram were normal. Neostigmine and edrophonium tests ...

Agrin, released by motor neurons, promotes neuromuscular synapse formation by stimulating MuSK, a receptor tyrosine kinase expressed in skeletal muscle. Phosphorylated MuSK recruits docking protein-7 (Dok-7), an adaptor protein that is expressed selectively in muscle. In the absence of Dok-7, neuromuscular synapses fail to form, and mutations that impair Dok-7 are a major cause of congenital my...