title: Analysis of terms used for the diagnosis and classification of amyotrophic lateral sclerosis and motor neuron disease.
abstract: There is no test for amyotrophic lateral sclerosis (ALS) and so attempts have been made to produce standardized diagnostic criteria based on clinical and electrophysiological findings, e.g. El Escorial. However, the phenotypic classification of the subtypes of ALS is also based on clinical features leading to conflation of diagnosis and phenotype. We used a five-question online survey with ALS specialists to explore the range of descriptors and how they are used. Of 101 specialists approached, 72 completed the survey. The most frequently used labels were 'ALS', 'PLS' and 'familial'. Labels other than the El Escorial categories were mainly used as clinical descriptors (83%). Approximately 50% of respondents recorded that the El Escorial criteria had no useful role in patient discussion or in the diagnostic process. Only 31% of respondents rated their current classification system above the median for being logical. A more rational system explicitly distinguishing diagnostic and phenotypic criteria is essential.
authors.affiliation: a Department of Basic and Clinical Neuroscience , Maurice Wohl Clinical Neuroscience Institute, King's College London , London, UK.
authors.forename: Zoe
authors.initials: Z
authors.lastname: Rutter-Locher
authors.affiliation: b Nuffield Department of Clinical Neurosciences , University of Oxford, UK , Oxford , and.
authors.forename: Martin R
authors.initials: MR
authors.lastname: Turner
authors.affiliation: c Division of Medicine (Section of Neurology), Brighton and Sussex Medical School , University of Sussex , Falmer, Brighton , UK.
authors.forename: P Nigel
authors.initials: PN
authors.lastname: Leigh
authors.affiliation: a Department of Basic and Clinical Neuroscience , Maurice Wohl Clinical Neuroscience Institute, King's College London , London, UK.
authors.forename: Ammar
authors.initials: A
authors.lastname: Al-Chalabi
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000145:classification* / Q000175:diagnosis*; D005260:Female; D006306:Health Surveys; D006801:Humans; D008297:Male; D016472:Motor Neuron Disease / Q000145:classification* / Q000175:diagnosis*; D009862:Online Systems; D010641:Phenotype
keywords: Classification of ALS/MND; diagnosis of ALS/MND; phenotype of ALS/MND