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CC BY 4.0 · Arq Neuropsiquiatr 2022; 80(07): 676-680
DOI: 10.1055/s-0042-1755224
Original Article

Misdiagnoses in a Brazilian population with amyotrophic lateral sclerosis

Erros de diagnóstico em uma população brasileira com esclerose lateral amiotrófica
Vinicius Stefani Borghetti 
1   Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Ribeirão Preto SP, Brazil.
,
Vívian Pedigone Cintra 
1   Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Ribeirão Preto SP, Brazil.
2   Centro Universitário Municipal de Franca, Franca SP, Brazil.
,
Jean de Oliveira Ramos 
1   Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Ribeirão Preto SP, Brazil.
,
Vanessa Daccach Marques 
1   Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Ribeirão Preto SP, Brazil.
,
Patrícia Toscano Onofre 
1   Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Ribeirão Preto SP, Brazil.
,
Victor Augusto Souza Santana 
2   Centro Universitário Municipal de Franca, Franca SP, Brazil.
,
Lua Flora Pereira Bezerra 
2   Centro Universitário Municipal de Franca, Franca SP, Brazil.
,
Pedro José Tomaselli 
1   Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Ribeirão Preto SP, Brazil.
,
André Cleriston José dos Santos 
1   Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Ribeirão Preto SP, Brazil.
,
Claudia Ferreira da Rosa Sobreira 
1   Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Ribeirão Preto SP, Brazil.
,
Wilson Marques Jr 
1   Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Ribeirão Preto SP, Brazil.
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Abstract

Background Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects the upper and lower motor neurons. The correct diagnosis at the onset of the disease is sometimes very difficult, due to the symptoms being very similar to those of other neurological syndromes.

Objective This study aimed to analyze the initial manifestations, the specialty of the first physician visited due the initial complaint, the misdiagnoses, as well as the unnecessary surgical interventions in a new ALS Brazilian population.

Methods The medical records of 173 patients with typical ALS were reviewed.

Results The present study demonstrated that other symptoms, besides weakness, were very frequent as initial presentation of ALS, and orthopedics was the medical specialty most sought by patients at the onset of symptoms. Our frequency of misdiagnoses was 69.7%, and in 7.1% of them, an unnecessary surgical intervention was performed.

Conclusions Amyotrophic lateral sclerosis presents a very large pool of signs and symptoms; therefore, there is an urgent need of increasing the disease awareness to other specialties due to the high frequency of misdiagnoses observed in clinical practice.

Resumo

Antecedentes A esclerose lateral amiotrófica (ELA) é uma doença neurodegenerativa que afeta os neurônios motores superior e inferior. O diagnóstico correto no início da doença é, às vezes, muito difícil, pois os sintomas de início são muito semelhantes aos de outras síndromes neurológicas.

Objetivo Este estudo teve como objetivo analisar as manifestações iniciais, a especialidade do primeiro médico visitado devido à queixa inicial, os diagnósticos errôneos, bem como as intervenções cirúrgicas desnecessárias em uma nova população brasileira acometida por ELA.

Métodos Os prontuários médicos de 173 pacientes com ELA típica foram revisados.

Resultados O presente estudo demonstrou que outros sintomas, além da fraqueza, foram muito frequentes como apresentação inicial da ELA, sendo a ortopedia a especialidade médica mais procurada pelos pacientes no início dos sintomas. Nossa frequência de diagnósticos errôneos foi de 69,7%, e em 7,1% deles foi realizada intervenção cirúrgica desnecessária.

Conclusões A ELA apresenta um conjunto amplo de sinais e sintomas; portanto, há necessidade urgente de uma melhor educação de outras especialidades devido à alta frequência de diagnósticos equivocados observada na prática clínica.

Keywords

Amyotrophic Lateral Sclerosis - Motor Neuron Disease - Diagnostic Errors - Unnecessary Procedures

Palavras-chave

Esclerose Amiotrófica Lateral - Doença dos Neurônios Motores - Erros de Diagnóstico - Procedimentos Desnecessários

Authors' Contributions

VB: conceptualization, data curation, formal analysis, investigation, methodology, project administration, validation, and writing - original draft; VPC: data curation, formal analysis, investigation, validation, and writing - review & editing. JOR: data curation, formal analysis, writing - review & editing; VDM, PTO, CFRS: data curation, formal analysis, and investigation; VASS, LFPB, PJT: data curation, validation, writing - review & editing; ACJS: data curation, visualization, writing - review & editing; WMJ: conceptualization, data curation, formal analysis, funding acquisition, investigation, methodology, project administration, resources, supervision, writing - review & editing.


Support

This work was supported by Conselho Nacional de Desenvolvimento Científico e Tecnológico – CNPq (4019942010-4, Edital 01/2016–Edição 2016), Comissão de Aperfeiçoamento de Pessoal do Nível Superior – CAPES (USP/RPMedicine – Neurology: 33002029012P3), and Fundação de Apoio ao Ensino, Pesquisa e Assistência – FAEPA, Brazil.




Publication History

Received: 12 February 2021

Accepted: 02 September 2021

Article published online:
29 September 2022

© 2022. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/)

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