Limb girdle myasthenic syndromes are rare genetic disorders described under the broad heterogeneous group known as congenital myasthenic syndromes and present with mixed features of myasthenia and myopathy. The familial limb girdle myasthenia has been described as one with selective weakness of pectoral and pelvic girdles, showing a positive response to edrophonium chloride. A report of two sis...

Two cases of familial myasthenia gravis are reported. One patient is a typical case of autoimmune myasthenia with positive anti acetylcholine receptor antibodies, while in the second patient the impairment of neuromuscular transmission is likely to be due to antibodies directed against determinants other than the acetylcholine receptors.

BACKGROUND In myasthenia gravis, antibody-mediated blockade of acetylcholine receptors at the neuromuscular junction abolishes the naturally occurring 'safety factor' of synaptic transmission. Acetylcholinesterase inhibitors provide temporary symptomatic treatment of muscle weakness, but there is controversy about their long-term efficacy, dosage and side effects. OBJECTIVES To evaluate the e...

The in vivo synthesis of diaphragm endplate acetylcholine receptors was estimated in mice treated daily with IgG from eight myasthenia gravis patients. Myasthenia gravis IgG preparations which had previously been shown to increase the rate of receptor degradation also increased the rate of receptor synthesis, suggesting the existence of a compensatory mechanism serving to stabilise the number o...

Introduction True myasthenia gravis, as distinct from the myasthenic syndrome (Eaton-Lambert syndrome), has not been described in association with neoplastic disease other than malignant thymoma (Simpson, 1958). A case of ocular/bulbar myasthenia gravis occurring in a patient with breast carcinoma is described in which the temporal relationship between the disorders is such that the association...

Dysarthria, dysphagia and repeated aspiration in a 54-year-old woman diagnosed and treated for myasthenia gravis 7 years earlier were initially thought to represent a late exacerbation of myasthenia. A cervical mass invading the jugular foramen and causing multiple lower cranial nerve palsies was biopsied and found to represent invasive ectopic thymoma.

The G2m(n) allotype was significantly increased in Chinese female and high autoantibody cases, and in caucasians with pure ocular myasthenia, or undetectable autoantibody. In contrast to the strong Glm(x) association reported in Japanese, no overall Gm haplotype, or Am or Km allotype association was found in 90 (Taiwan) Chinese and 181 caucasian myasthenia gravis patients.

The case of a 65 year old female with myasthenia gravis and hypercalcaemia is presented. Failure of medical control of the myasthenia necessitated thymectomy at which time parathyroid exploration was also carried out. This revealed parathyroid hyperplasia and a thymoma. This association has not been previously documented in the literature.

Introduction. Myasthenia Gravis is an autoimmune disorder, which is clinically a neuromuscular illness that shows itself as muscular weakness and fatigue. The diagnosis of Myasthenia Gravis depends on clinical evaluation, electrophysiological assessment, and autoantibody detection in serum. Known antibodies could be found in about 90% of the patients, which had a causative relation with disease...