Advances in the diagnosis of neuromuscular junction disorders

Disorders of the neuromuscular junction have a wide range of clinical presentations, which frequently poses a diagnostic challenge to evaluating clinicians. This article describes the tests used in the diagnosis of diseases of the neuromuscular junction, reviews the evidence supporting the use of each test, and proposes guidelines for their efficient utilization. A focused review of the literature was employed. Reports from four main categories of diagnostic tests (pharmacologic, electrodiagnostic, immunologic, and miscellaneous tests) were reviewed, and the sensitivity and specificity of each test in the diagnosis of specific neuromuscular junction diseases were examined. The clinical presentation determines which diagnostic tests should be utilized in individual cases of suspected neuromuscular junction disease. However, knowledge of the sensitivity and specificity of each test can help to focus the diagnostic evaluation and maximize the diagnostic yield of each test.