Diagnosis of amyotrophic lateral sclerosis by respiratory function test
Keywords:
Amyotrophic lateral sclerosis, pulmonary function test, respiratory impairmentAbstract
The diagnostic criterion for amyotrophic lateral sclerosis (ALS) based on the findings of concomitant clinical and electrophysiological evidence of upper and lower motor neuron involvement may remain unsatisfied for months and in some patients, even for years in the early stage of the disease. Since respiratory involvement is an onset symptom of ALS in only 1-3% of patients, pulmonary assessment has never been considered useful in the early diagnosis of ALS. However, studies on pulmonary function are lacking, especially in those early stages where neurologic tests are also inconclusive. In contrast to the scarcity of data in the early stages, as the disease progresses, it is increasingly enriched by a rich set of symptoms and positive respiratory tests until respiratory failure occurs, which represents the main cause of death in ALS. Hereby we analyze the main pulmonary function tests (PFT) in the various stages of the disease, up to the recent evidence for the possibility of an early diagnosis.
References
Shefner JM, Al-Chalabi A, Baker MR, Cui LY, de Carvalho M, Eisen A, et al. A proposal for new diagnostic criteria for ALS. Clin Neurophysiol 2020;131:1975-8.
Shoesmith CL, Findlater K, Rowe A, Strong MJ. Prognosis of amyotrophic lateral sclerosis with respiratory onset. J Neurol Neurosurg Psychiatry 2007;78:629-31.
Braun AT, Caballero-Eraso C, Lechtzin N. Amyotrophic Lateral sclerosis and the respiratory system. Clin Chest Med 2018;39:391-400.
Bourke SC, Bullock RE, Williams TL, Shaw PJ, Gibson GJ. Noninvasive ventilation in ALS: indications and effect on quality of life. Neurology 2003;61:171-7.
Farrero E, Prats E, Povedano M, Martinez-Matos JA, Manresa F, Escarrabill J. Survival in amyotrophic lateral sclerosis with home mechanical ventilation: the impact of systematic respiratory assessment and bulbar involvement. Chest 2005;127:2132-8.
Mustfa N, Moxham J. Respiratory muscle assessment in motor neurone disease. QJM 2001;94:497-502.
Chiò A, Calvo A, Moglia C, Mazzini L, Mora G. Phenotypic heterogeneity of amyotrophic lateral sclerosis: a population based study. J Neurol Neurosurg Psychiatry 2011;82:740-6.
Polverino F, de Torres JP, Santoriello C, Capuozzo A, Mauro I, Rojas-Quintero J, et al. Gas exchange and breathing pattern in women with postmenopausal bone fragility. Respir Med 2018;137:141-6.
Czaplinski A, Yen AA, Appel SH. Forced vital capacity (FVC) as an indicator of survival and disease progression in an ALS clinic population. J Neurol Neurosurg Psychiatry 2006;77:390-2.
Andersen PM, Abrahams S, Borasio GD, de Carvalho M, Chio A, Van Damme P, et al. EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. Eur J Neurol 2012;19:360-75.
Chandrasoma B, Balfe D, Naik T, Elsayegh A, Lewis M, Mosenifar Z. Pulmonary function in patients with amyotrophic lateral sclerosis at disease onset. Monaldi Arch Chest Dis 2012;77:129-33.
De Troyer A, Borenstein S, Cordier R. Analysis of lung volume restriction in patients with respiratory muscle weakness. Thorax 1980;35:603-10.
Lechtzin N, Wiener CM, Shade DM, Clawson L, Diette GB. Spirometry in the supine position improves the detection of diaphragmatic weakness in patients with amyotrophic lateral sclerosis. Chest 2002;121:436-42.
Vitacca M, Clini E, Facchetti D, Pagani M, Poloni M, Porta R, et al. Breathing pattern and respiratory mechanics in patients with amyotrophic lateral sclerosis. Eur Respir J 1997;10:1614-21.
Norris FH Jr., Calanchini PR, Fallat RJ, Panchari S, Jewett B. The administration of guanidine in amyotrophic lateral sclerosis. Neurology 1974;24:721-8.
Pirola A, De Mattia E, Lizio A, Sannicolò G, Carraro E, Rao F, et al. The prognostic value of spirometric tests in amyotrophic lateral sclerosis patients. Clin Neurol Neurosurg 2019;184:105456.
Kimura F, Fujimura C, Ishida S, Nakajima H, Furutama D, Uehara H, et al. Progression rate of ALSFRS-R at time of diagnosis predicts survival time in ALS. Neurology 2006;66:265-7.
de Carvalho M, Fernandes SR, Pereira M, Gromicho M, Santos MO, Alves I, et al. Respiratory function tests in amyotrophic lateral sclerosis: The role of maximal voluntary ventilation. J Neurol Sci 2022;434:120143.
Polverino M, Sampaolo S, Capuozzo A, Fasolino M, Aliberti M, Satta E, et al. Respiratory function changes as early signs of amyotrophic lateral sclerosis. Respiration 2023;102919-23.
Chaudhuri KR, Crump S, al-Sarraj S, Anderson V, Cavanagh J, Leigh PN. The validation of El Escorial criteria for the diagnosis of amyotrophic lateral sclerosis: a clinicopathological study. J Neurol Sci 1995;129:S11-2.
Brooks BR, Miller RG, Swash M, Munsat TL. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2000;1:293-9.
Brooks BR. El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial "Clinical limits of amyotrophic lateral sclerosis" workshop contributors. J Neurol Sci 1994;124:S96-107.
Milic-Emili J, Zin WA. Breathing responses to imposed mechanical loads. In: Cherniak NS, Widdicome JG, editors. Handbook of Physiology, The Respiratory System, Control of Breathing. II. Bethesda: American Physiological Society; 1986. pp. 751-769.
Downloads
Published
Issue
Section
License
Copyright (c) 2023 The Author(s)
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Mattioli 1885 has chosen to apply the Creative Commons Attribution NonCommercial 4.0 International License (CC BY-NC 4.0) to all manuscripts to be published.
How to Cite
