ALSでみられる筋萎縮

ALSでは四肢および手、舌に筋萎縮がみられる
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1: 著者提供

厚生労働省指定難病　ALS認定基準

上位・下位運動ニューロン障害の徴候

改訂El Escorial診断基準

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1: 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.

Gold Coast診断基準の主要項目

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1: 澁谷和幹：ALSの新たな展開　Gold Coast診断基準．臨床神経生理学．2020;48(5):468.
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2: Gold Coast diagnostic criteria: Implications for ALS diagnosis and clinical trial enrollment.
著者: Steve Vucic, Toby A Ferguson, Catherine Cummings, Michael T Hotchkin, Angela Genge, Robert Glanzman, Kasper C D Roet, Merit Cudkowicz, Matthew C Kiernan
雑誌名: Muscle Nerve. 2021 Nov;64(5):532-537. doi: 10.1002/mus.27392. Epub 2021 Aug 24.
Abstract/Text: Diagnostic criteria for amyotrophic lateral sclerosis (ALS) are complex, incorporating multiple levels of certainty from possible through to definite, and are thereby prone to error. Specifically, interrater variability was previously established to be poor, thereby limiting utility as diagnostic enrollment criteria for clinical trials. In addition, the different levels of diagnostic certainty do not necessarily reflect disease progression, adding confusion to the diagnostic algorithm. Realizing these inherent limitations, the World Federation of Neurology, the International Federation of Clinical Neurophysiology, the International Alliance of ALS/MND Associations, the ALS Association (United States), and the Motor Neuron Disease Association convened a consensus meeting (Gold Coast, Australia, 2019) to consider the development of simpler criteria that better reflect clinical practice, and that could merge diagnostic categories into a single entity. The diagnostic accuracy of the novel Gold Coast criteria was subsequently interrogated through a large cross-sectional study, which established an increased sensitivity for ALS diagnosis when compared with previous criteria. Diagnostic accuracy was maintained irrespective of disease duration, functional status, or site of disease onset. Importantly, the Gold Coast criteria differentiated atypical phenotypes, such as primary lateral sclerosis, from the more typical ALS phenotype. It is proposed that the Gold Coast criteria should be incorporated into routine practice and clinical trial settings.

© 2021 Wiley Periodicals LLC.
Muscle Nerve. 2021 Nov;64(5):532-537. doi: 10.1002/mus.27392. Epub 202...

呼吸障害の対処アルゴリズム

a：筋萎縮性側索硬化症（ALS）／運動ニューロン疾患（MND）における呼吸機能不全の管理フローチャート
b：筋萎縮性側索硬化症における呼吸機能不全の症状および徴候（Leigh et al.より改変）
出典
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1: EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force.
著者: EFNS Task Force on Diagnosis and Management of Amyotrophic Lateral Sclerosis:, Peter M Andersen, Sharon Abrahams, Gian D Borasio, Mamede de Carvalho, Adriano Chio, Philip Van Damme, Orla Hardiman, Katja Kollewe, Karen E Morrison, Susanne Petri, Pierre-Francois Pradat, Vincenzo Silani, Barbara Tomik, Maria Wasner, Markus Weber
雑誌名: Eur J Neurol. 2012 Mar;19(3):360-75. doi: 10.1111/j.1468-1331.2011.03501.x. Epub 2011 Sep 14.
Abstract/Text: BACKGROUND: The evidence base for the diagnosis and management of amyotrophic lateral sclerosis (ALS) is weak.
OBJECTIVES: To provide evidence-based or expert recommendations for the diagnosis and management of ALS based on a literature search and the consensus of an expert panel.
METHODS: All available medical reference systems were searched, and original papers, meta-analyses, review papers, book chapters and guidelines recommendations were reviewed. The final literature search was performed in February 2011. Recommendations were reached by consensus.
RECOMMENDATIONS: Patients with symptoms suggestive of ALS should be assessed as soon as possible by an experienced neurologist. Early diagnosis should be pursued, and investigations, including neurophysiology, performed with a high priority. The patient should be informed of the diagnosis by a consultant with a good knowledge of the patient and the disease. Following diagnosis, the patient and relatives/carers should receive regular support from a multidisciplinary care team. Medication with riluzole should be initiated as early as possible. Control of symptoms such as sialorrhoea, thick mucus, emotional lability, cramps, spasticity and pain should be attempted. Percutaneous endoscopic gastrostomy feeding improves nutrition and quality of life, and gastrostomy tubes should be placed before respiratory insufficiency develops. Non-invasive positive-pressure ventilation also improves survival and quality of life. Maintaining the patient's ability to communicate is essential. During the entire course of the disease, every effort should be made to maintain patient autonomy. Advance directives for palliative end-of-life care should be discussed early with the patient and carers, respecting the patient's social and cultural background.

© 2011 The Author(s). European Journal of Neurology © 2011 EFNS.
Eur J Neurol. 2012 Mar;19(3):360-75. doi: 10.1111/j.1468-1331.2011.035...

栄養障害に対する対応：栄養管理のアルゴリズム

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1: Practice parameter update: the care of the patient with amyotrophic lateral sclerosis: drug, nutritional, and respiratory therapies (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology.
著者: R G Miller, C E Jackson, E J Kasarskis, J D England, D Forshew, W Johnston, S Kalra, J S Katz, H Mitsumoto, J Rosenfeld, C Shoesmith, M J Strong, S C Woolley, Quality Standards Subcommittee of the American Academy of Neurology
雑誌名: Neurology. 2009 Oct 13;73(15):1218-26. doi: 10.1212/WNL.0b013e3181bc0141.
Abstract/Text: OBJECTIVE: To systematically review evidence bearing on the management of patients with amyotrophic lateral sclerosis (ALS).
METHODS: The authors analyzed studies from 1998 to 2007 to update the 1999 practice parameter. Topics covered in this section include slowing disease progression, nutrition, and respiratory management for patients with ALS.
RESULTS: The authors identified 8 Class I studies, 5 Class II studies, and 43 Class III studies in ALS. Important treatments are available for patients with ALS that are underutilized. Noninvasive ventilation (NIV), percutaneous endoscopic gastrostomy (PEG), and riluzole are particularly important and have the best evidence. More studies are needed to examine the best tests of respiratory function in ALS, as well as the optimal time for starting PEG, the impact of PEG on quality of life and survival, and the effect of vitamins and supplements on ALS.
RECOMMENDATIONS: Riluzole should be offered to slow disease progression (Level A). PEG should be considered to stabilize weight and to prolong survival in patients with ALS (Level B). NIV should be considered to treat respiratory insufficiency in order to lengthen survival (Level B) and to slow the decline of forced vital capacity (Level B). NIV may be considered to improve quality of life (Level C) [corrected].Early initiation of NIV may increase compliance (Level C), and insufflation/exsufflation may be considered to help clear secretions (Level C).
Neurology. 2009 Oct 13;73(15):1218-26. doi: 10.1212/WNL.0b013e3181bc01...