Resumen
Definición
Anamnesis y examen
Principales factores de diagnóstico
- presença de fatores de risco
- fraqueza dos membros superiores
- rigidez, com comprometimento de coordenação e equilíbrio
- marcha espástica instável
- espasmos musculares dolorosos
- dificuldades para se levantar de cadeiras e subir escadas
- pé caído
- rigidez e diminuição do equilíbrio com impacto na marcha
- cabeça caída
- dificuldades progressivas de manter a postura ortostática, ao se inclinar
- atrofia muscular
- aumento da lordose lombar e tendência de protuberância abdominal
- hiper-reflexia
- dispneia
- tosse e sufocamento com líquidos (incluindo secreções) e eventualmente com alimentos
- fala lenta e comprimida
- fala indistinta, nasal e, às vezes, disfônica
- fala hipofônica
Otros factores de diagnóstico
- propensão a quedas
- sialorreia
- crises inadequadas de choro ou riso
- comprometimento cognitivo
- características da demência frontotemporal
Factores de riesgo
- predisposição genética ou história familiar
- idade >40 anos
- serviço militar
- atividade atlética profissional
- tabagismo
- exposição a substâncias químicas agrícolas
- exposição ao chumbo
Pruebas diagnósticas
Primeras pruebas diagnósticas para solicitar
- diagnóstico clínico
Pruebas diagnósticas que deben considerarse
- eletromiografia (EMG) e estudos da condução nervosa
- estimulação nervosa repetitiva
- ressonância nuclear magnética (RNM) cranioencefálica e da coluna
- anticorpos anti-GM1
- anticorpos contra o canal de cálcio dependente de voltagem
- anticorpos antirreceptor da acetilcolina (AChR) e antitirosina quinase músculo-específica (MuSK)
- vitamina B₁₂
- creatina quinase
- punção lombar
- teste de HIV
- teste genético
Algoritmo de tratamiento
todos os pacientes
Colaboradores
Autores
Christen Shoesmith, MD, FRCPC
Associate Professor of Neurology
Clinical Neurological Sciences
London Health Sciences Centre
London
Ontario
Canada
Divulgaciones
CS has received honoraria from Mitsubishi Tanabe Pharma Canada for participating in scientific medical advisory boards and for presenting at ALS CME events. She has also received stipends for consultancy work for Biogen. She is the chair of the CALS (Canadian ALS Research Network) and in that capacity sits on the scientific medical advisory board for ALS Canada. She is the site PI for several multi-centre clinical trials, including trials sponsored by Mitsubishi Tanabe, AL-S Pharma, Sanofi, Calico, and Cytokintetics. CS is an author of references cited in this topic.
Agradecimientos
Dr Christen Shoesmith would like to gratefully acknowledge Professor Christopher J. McDermott, Dr Laura Simionescu, and Dr Jeremy Shefner, previous contributors to this topic.
Divulgaciones
CJM received fees for membership of data monitoring committees from Orion Pharma and Orphazyme. LS and JS declare that they have no competing interests.
Revisores por pares
William S. David, MD, PhD
Associate Professor of Neurology
Harvard Medical School
Boston
MA
Divulgaciones
WSD declares that he has no competing interests.
Leo McCluskey, MD MBE
Associate Professor of Neurology
University of Pennsylvania
Philadelphia
PA
Divulgaciones
LM declares that he has no competing interests.
Martin R. Turner, MA, MBBS, PhD, MRCP
MRC/MNDA Lady Edith Wolfson Clinician Scientist & Honorary Consultant Neurologist
Oxford University Department of Clinical Neurology
John Radcliffe Hospital
Oxford
UK
Divulgaciones
MRT is a co-author of "Motor Neuron Disease – A Practical Manual" (Oxford University Press, 2010), which is a summary of his own understanding and practice, and which strongly influenced the recommendations for revision of the current article. He receives a proportion of royalties derived from sales of this book.
Referencias
Artículos principales
Shoesmith C, Abrahao A, Benstead T, et al. Canadian best practice recommendations for the management of amyotrophic lateral sclerosis. CMAJ. 2020 Nov 16;192(46):E1453-68.Texto completo Resumen
Andersen PM, Abrahams S, Borasio GD, et al. EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS) - revised report of an EFNS task force. Eur J Neurol. 2012 Mar;19(3):360-75.Texto completo Resumen
Brooks BR, Miller RG, Swash M, et al; World Federation of Neurology Research Group on Motor Neuron Diseases. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000 Dec;1(5):293-9. Resumen
de Carvalho M, Dengler R, Eisen A, et al. Electrodiagnostic criteria for diagnosis of ALS. Clin Neurophysiol. 2008 Mar;119(3):497-503. Resumen
Shefner JM, Al-Chalabi A, Baker MR, et al. A proposal for new diagnostic criteria for ALS. Clin Neurophysiol. 2020 Aug;131(8):1975-8.Texto completo Resumen
Miller RG, Jackson CE, Kasarskis EJ, et al; Quality Standards Subcommittee of the American Academy of Neurology. Practice parameter update: the care of the patient with amyotrophic lateral sclerosis: multidisciplinary care, symptom management, and cognitive/behavioral impairment (an evidence-based review). Neurology. 2009 Oct 13;73(15):1227-33.Texto completo Resumen
Miller RG, Jackson CE, Kasarskis EJ, et al; Quality Standards Subcommittee of the American Academy of Neurology. Practice parameter update: the care of the patient with amyotrophic lateral sclerosis: drug, nutritional, and respiratory therapies (an evidence-based review). Neurology. 2009 Oct 13;73(15):1218-26. [Errata in: Neurology. 2009 Dec 15;73(24):2134; Neurology. 2010 Mar 2;74(9):781.]Texto completo Resumen
Artículos de referencia
Una lista completa de las fuentes a las que se hace referencia en este tema está disponible para los usuarios con acceso a todo BMJ Best Practice.
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