Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0004364 (autoimmune disease)
 24,845 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two cases of a neuromuscular hyperactivity syndrome associated with a proliferative thymoma and high serum titres of acetylcholine receptor (AChR) antibody with no signs of myasthenia are reported. The clinical and electrodiagnostic findings indicated generalized cholinergic hyperactivity at the neuromuscular junction and in the autonomic and central nervous system, resulting in generalized myokymia, excessive sweating and intermittent psychotic behaviour. The association with thymoma and raised AChR antibody suggests that this syndrome represents a unique type of autoimmune disease, in which antibodies against the AChR facilitate rather than inhibit cholinergic action. This conclusion is supported by the remission of symptoms after thymectomy and with immunosuppressive therapy in one case.
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PMID:Neuromuscular, autonomic and central cholinergic hyperactivity associated with thymoma and acetylcholine receptor-binding antibody. 365 49

A 35 year-old man developed a syndrome with muscle cramp, myokimia, generalized, fasciculations, excessive sweating, sleep disorders and severe impairment. It was a syndrome of continuous muscle fiber activity--or Isaacs syndrome--with central disorders (this may be called "Maladie de Morvan"). Previous reports have suggested that Isaac's syndrome might be an autoimmune disorder. Moreover, high doses intravenous immunoglobulins were given resulting in a substantial improvement six months after the onset of this treatment.
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PMID:[Isaacs syndrome: long-term improvement with intravenous polyvalent immunoglobulins]. 968 27