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Early diagnosis of amyotrophic lateral sclerosis mimic syndromes: pros and cons of current clinical diagnostic criteria

Lookup NU author(s): Professor Jordi Diaz ManeraORCiD


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© 2017 World Federation of Neurology on behalf of the Research Group on Motor Neuron Diseases. Objective: To describe the frequency and clinical characteristics of patients referred to a tertiary neuromuscular clinic as having amyotrophic lateral sclerosis (ALS) but who were re-diagnosed as having an ALS mimic syndrome, and to identify the reasons that led to the revision of the diagnosis. Methods: We reviewed the final diagnosis of all patients prospectively registered in the Sant Pau-MND register from 1 January 2004 to 31 December 2015. A detailed clinical evaluation and a clinically-guided electrophysiological study were performed at first evaluation. Results: Twenty of 314 (6.4%) patients included were re-diagnosed as having a condition other than ALS, in 18 cases already at first evaluation. An alternative specific diagnosis was identified in 17 of those 20, consisting of a wide range of conditions. The main finding leading to an alternative diagnosis was the result of the electrophysiological study. Fifty per cent did not fulfil the El Escorial revised criteria (EECr) for ALS. The most common clinical phenotype at onset in patients with ALS mimic syndromes was progressive muscular atrophy (PMA). Conclusions: Misdiagnosing ALS is still a common problem. Early identification of ALS mimic syndromes is possible based on atypical clinical features and a clinically-guided electrophysiological study. Patients should be attended in specialised centres. The application of EECr helps to identify ALS misdiagnoses.

Publication metadata

Author(s): Cortes-Vicente E, Pradas J, Marin-lahoz J, De Luna N, Clarimon J, Turon-Sans J, Gelpi E, Diaz-Manera J, Illa I, Rojas-Garcia R

Publication type: Article

Publication status: Published

Journal: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Year: 2017

Volume: 18

Issue: 5-6

Pages: 333-340

Online publication date: 25/04/2017

Acceptance date: 02/04/2017

ISSN (print): 2167-8421

ISSN (electronic): 2167-9223

Publisher: Taylor and Francis Ltd


DOI: 10.1080/21678421.2017.1316408

PubMed id: 28440098


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