Elena Cortés-Vicente1,2, Jesús Pradas1,2, Juan Marín-Lahoz3,4, Noemi De Luna1,2, Jordi Clarimón4,5, Janina Turon-Sans1,2, Ellen Gelpí6, Jordi Díaz-Manera1,2, Isabel Illa1,2, Ricard Rojas-Garcia1,2. 1. a Neuromuscular Diseases Unit, Department of Neurology , Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona , Barcelona , Spain. 2. b Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) , Barcelona , Spain. 3. c Department of Neurology , Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona , Barcelona , Spain. 4. d Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III , Madrid , Spain. 5. e Genetics of Neurodegenerative Disorders Unit, Department of Neurology , IIB Sant Pau, Hospital de la Santa Creu i Sant Pau , Barcelona , Spain , and. 6. f Neurological Tissue Bank of the Biobanc-Hospital Clinic-IDIBAPS , Barcelona , Spain.
Abstract
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.
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.
Entities:
Keywords:
ALS mimic syndromes; Amyotrophic lateral sclerosis; early diagnosis; phenotypes