ISIS Survey: an international study on the diagnostic process and its implications in amyotrophic lateral sclerosis

In a number of ALS patients, a long delay between onset of symptoms and dia gnosis is reported. In this international study (ISIS Survey) we have ident ified the pathway followed by ALS patients from first symptoms to diagnosis confirmation. Diagnostic data from a total of 201 patients with definite A LS from 6 countries (Argentina, Brazil, Germany, Italy, Spain and the USA) were analyzed. The median time needed to confirm diagnosis was found to be 14 months; time to first consultation took 2 months, time to consultation w ith a neurologist took 8 months, and time for observation and diagnostic as sessment by the neurologist took 4 months. This time delay was shorter when presentation was at bulbar level and when fasciculations were present. The major causes of diagnostic delay were unfamiliarity of the physician with the disease, unusual clinical presentation, coexistence of other diseases t o which clinical symptomatology was attributed, misleading findings or misi nterpretation of neuro-radiological or neurophysiological findings. The dia gnostic delay has several implications for patients and their families, inc luding mismanagement, delay in establishing appropriate and individualized pharmacological and symptomatic therapies, and difficulty in planning perso nal and familiar future.