title: Muscle weakness and congenital contractures in a case of congenital myasthenia.
abstract: A case of nonautoimmune, prenatal-onset, congenital myasthenia with congenital contractures including camptodactyly is presented. The clinical features re identical to those in three previously reported cases. In this form of congenital myasthenia, the muscle weakness and congenital contractures may resolve completely after conservative treatment, including anticholinesterase medication. Diagnosis can be made by the characteristic clinical history, neurological assessment, and electromyography with repetitive nerve stimulation.
mesh_terms: D003286:Contracture / Q000151:congenital*; D004491:Edrophonium / Q000627:therapeutic use; D004576:Electromyography; D006801:Humans; D007231:Infant, Newborn; D007717:Knee; D008297:Male; D009123:Muscle Hypotonia / Q000151:congenital* / Q000209:etiology; D009157:Myasthenia Gravis / Q000150:complications / Q000151:congenital* / Q000188:drug therapy
chemical_list: D004491:Edrophonium