Clinical approach to the diagnostic evaluation of progressive neuromuscular diseases

This article has reviewed the clinical approach to the diagnostic evaluation of progressive neuromuscular diseases with an emphasis on relevant neuromuscular history, family history, clinical examination findings, laboratory studies, and a brief discussion of the role of muscle biopsy. Molecular genetic and immunocytochemistry studies of muscle have been major advances in the diagnostic evaluation of the neuromuscular disease patient; however, all diagnostic information must be interpreted within the context of relevant clinical information. In some instances, a precise diagnosis is not medically possible; however, the accurate characterization of an individual patient within the most appropriate NMD clinical syndrome often allows the clinician to provide the patient and family with accurate prognostic information and anticipatory guidance for the future. After synthesizing all available clinical and diagnostic information, the physiatrist or neurologist may at times determine that an NMD patient has an inappropriate diagnosis warranting further diagnostic evaluation. This issue focuses on the rehabilitation of progressive neuromuscular diseases with an emphasis on optimization of health, prevention or minimization of complications, and enhancement of quality of life. Appropriate rehabilitation approaches require an accurate diagnosis. In addition, patient quality of life in NMD depends on access to current and accurate information. The first step in providing accurate information and appropriate treatment is constantly ensuring that NMD patients have appropriate diagnoses based on a through evaluation of clinical information and appropriate application of current medical science and available diagnostic technology.