Download PDF
Semin Respir Crit Care Med
DOI: 10.1055/a-2535-0859
Review Article

Evaluation of Neuromuscular Disease in Adults Presenting with Dyspnea

Daniel Scullin
1   University of Alabama at Birmingham, Birmingham, Alabama
,
Joseph Barney
1   University of Alabama at Birmingham, Birmingham, Alabama
› Author Affiliations Funding None.
› Further Information
    Permissions and Reprints

Abstract

Neuromuscular disorders in adults can present with a wide array of clinical features and vary from acute life-threatening complications such as respiratory failure to slow progressive weakness and comorbidity. Common to most of these disorders are symptoms of weakness and dyspnea. Many patients with occult neuromuscular disorders will be evaluated for underlying cardiac and pulmonary disease by primary care and subspecialty providers and can experience delays in diagnosis due to challenges in attaining early neurological testing and recognizing vague symptoms as potentially arising from the neuromuscular apparatus. Additionally, many adults who develop neuromuscular disorders have concomitant cardiac or pulmonary disease and the presence of dyspnea or limitations in mobility are often attributed to these without pursuing further workup. We outline a review of neuromuscular diseases in adults and an approach to evaluation.

Keywords

dyspnea - neuromuscular - weakness - diagnostic


Publication History

Article published online:
31 March 2025

© 2025. Thieme. All rights reserved.

Thieme Medical Publishers, Inc.
333 Seventh Avenue, 18th Floor, New York, NY 10001, USA

 

  • References

  • 1 American Thoracic Society. Dyspnea. Mechanisms, assessment, and management: a consensus statement. Am J Respir Crit Care Med 1999; 159 (01) 321-340
    CrossrefPubMedSearch in Google Scholar
  • 2 Levison LS, Blicher JU, Andersen H. Incidence and mortality of ALS: a 42-year population-based nationwide study. J Neurol 2024; 272 (01) 44
    CrossrefPubMedSearch in Google Scholar
  • 3 Carr AS, Cardwell CR, McCarron PO, McConville J. A systematic review of population based epidemiological studies in myasthenia gravis. BMC Neurol 2010; 10: 46
    CrossrefPubMedSearch in Google Scholar
  • 4 Mamarabadi M, Mauney S, Li Y, Aboussouan LS. Evaluation and management of dyspnea as the dominant presenting feature in neuromuscular disorders. Muscle Nerve 2024; 70 (05) 916-928
    CrossrefPubMedSearch in Google Scholar
  • 5 Hutchinson A, Pickering A, Williams P, Bland JM, Johnson MJ. Breathlessness and presentation to the emergency department: a survey and clinical record review. BMC Pulm Med 2017; 17 (01) 53
    CrossrefPubMedSearch in Google Scholar
  • 6 Stenson K, Chew S, Dong S, Heithoff K, Wang MJ, Rosenfeld J. Health care resource utilization and costs across stages of amyotrophic lateral sclerosis in the United States. J Manag Care Spec Pharm 2024; 30 (11) 1239-1247
    PubMedSearch in Google Scholar
  • 7 Larkindale J, Yang W, Hogan PF. et al. Cost of illness for neuromuscular diseases in the United States. Muscle Nerve 2014; 49 (03) 431-438
    CrossrefPubMedSearch in Google Scholar
  • 8 Broaddus V. ed. Murray & Nadel's Textbook of Respiratory Medicine. 6th ed.. Philadelphia, PA: Elsevier; 2016
    Search in Google Scholar
  • 9 Steier J, Kaul S, Seymour J. et al. The value of multiple tests of respiratory muscle strength. Thorax 2007; 62 (11) 975-980
    CrossrefPubMedSearch in Google Scholar
  • 10 Laghi F, Tobin MJ. Disorders of the respiratory muscles. Am J Respir Crit Care Med 2003; 168 (01) 10-48
    CrossrefPubMedSearch in Google Scholar
  • 11 McCool FD, Manzoor K, Minami T. Disorders of the diaphragm. Clin Chest Med 2018; 39 (02) 345-360
    CrossrefPubMedSearch in Google Scholar
  • 12 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 (02) 436-442
    CrossrefPubMedSearch in Google Scholar
  • 13 Kokatnur L, Rudrappa M. Diaphragmatic palsy. Diseases 2018; 6 (01) 16
    CrossrefPubMedSearch in Google Scholar
  • 14 Benditt JO. Respiratory care of patients with neuromuscular disease. Respir Care 2019; 64 (06) 679-688
    CrossrefPubMedSearch in Google Scholar
  • 15 Fromageot C, Lofaso F, Annane D. et al. Supine fall in lung volumes in the assessment of diaphragmatic weakness in neuromuscular disorders. Arch Phys Med Rehabil 2001; 82 (01) 123-128
    CrossrefPubMedSearch in Google Scholar
  • 16 American Thoracic Society/European Respiratory Society. ATS/ERS Statement on respiratory muscle testing. Am J Respir Crit Care Med 2002; 166 (04) 518-624
    CrossrefPubMedSearch in Google Scholar
  • 17 Richard B. ed. Sleep and Respiratory Physiology, Fundamentals of Sleep Medicine. Philadelphia, PA: W.B. Saunders; 2012: 141-157
    Search in Google Scholar
  • 18 Bruschi C, Cerveri I, Zoia MC. et al. Reference values of maximal respiratory mouth pressures: a population-based study. Am Rev Respir Dis 1992; 146 (03) 790-793
    CrossrefPubMedSearch in Google Scholar
  • 19 Minami T, Manzoor K, McCool FD. Assessing diaphragm function in chest wall and neuromuscular diseases. Clin Chest Med 2018; 39 (02) 335-3
    CrossrefPubMedSearch in Google Scholar
  • 20 Georges M, Perez T, Rabec C. et al. Proposals from a French expert panel for respiratory care in ALS patients. Respir Med Res 2022; 81: 100901
    CrossrefPubMedSearch in Google Scholar
  • 21 Brennan M, McDonnell MJ, Duignan N, Gargoum F, Rutherford RM. The use of cough peak flow in the assessment of respiratory function in clinical practice- a narrative literature review. Respir Med 2022; 193: 106740
    CrossrefPubMedSearch in Google Scholar
  • 22 Dubé BP, Dres M. Diaphragm dysfunction: diagnostic approaches and management strategies. J Clin Med 2016; 5 (12) 113
    CrossrefPubMedSearch in Google Scholar
  • 23 Chetta A, Rehman AK, Moxham J, Carr DH, Polkey MI. Chest radiography cannot predict diaphragm function. Respir Med 2005; 99 (01) 39-44
    CrossrefPubMedSearch in Google Scholar
  • 24 Hoffman RJ, Garner HW, Rojas CA. et al. Atypical causes of dyspnea: a review of neuromuscular and chest wall disorders that compromise ventilation. J Thorac Imaging 2022; 37 (04) W45-W55
    CrossrefPubMedSearch in Google Scholar
  • 25 Harlaar L, Ciet P, van der Ploeg AT. et al. Imaging of respiratory muscles in neuromuscular disease: a review. Neuromuscul Disord 2018; 28 (03) 246-256
    CrossrefPubMedSearch in Google Scholar
  • 26 Fyles F, FitzMaurice TS, Robinson RE, Bedi R, Burhan H, Walshaw MJ. Dynamic chest radiography: a state-of-the-art review. Insights Imaging 2023; 14 (01) 107
    CrossrefPubMedSearch in Google Scholar
  • 27 Uchida S, Matsunaga T, Hattori A, Fukui M, Takamochi K, Suzuki K. Efficacy of dynamic chest radiography for evaluating surgical treatment of diaphragmatic paralysis. Ann Thorac Surg Short Rep 2024; 2 (03) 502-505
    CrossrefPubMedSearch in Google Scholar
  • 28 Liu X, Yang Y, Jia J. Respiratory muscle ultrasonography evaluation and its clinical application in stroke patients: a review. Front Neurosci 2023; 17: 1132335
    CrossrefPubMedSearch in Google Scholar
  • 29 Lallement P, Boussuges A, Habert P. et al. Evaluation of computed tomography in the diagnosis of ultrasound-proven diaphragm dysfunction. Respir Res 2024; 25 (01) 135
    CrossrefPubMedSearch in Google Scholar
  • 30 Santana PV, Cardenas LZ, Albuquerque ALP, Carvalho CRR, Caruso P. Diaphragmatic ultrasound: a review of its methodological aspects and clinical uses. J Bras Pneumol 2020; 46 (06) e20200064
    CrossrefPubMedSearch in Google Scholar
  • 31 Barroso de Queiroz Davoli G, Bartels B, Mattiello-Sverzut AC, Takken T. Cardiopulmonary exercise testing in neuromuscular disease: a systematic review. Expert Rev Cardiovasc Ther 2021; 19 (11) 975-991
    CrossrefPubMedSearch in Google Scholar
  • 32 Kim SH, Choi Y, Oh EK. et al. Profiling of anti-signal-recognition particle antibodies and clinical characteristics in South Korean patients with immune-mediated necrotizing myopathy. J Clin Neurol 2025; 21 (01) 31-39
    CrossrefPubMedSearch in Google Scholar
  • 33 Shah D. et al. Value of diaphragm electromyography and phrenic nerve conduction studies in suspected diaphragm paresis (P5-13.005). Neurology 2022; 98 (18) 634
    CrossrefPubMedSearch in Google Scholar
  • 34 Sarwal A, Walker FO, Cartwright MS. Neuromuscular ultrasound for evaluation of the diaphragm. Muscle Nerve 2013; 47 (03) 319-329
    CrossrefPubMedSearch in Google Scholar
  • 35 Dow DE, Zhan WZ, Sieck GC, Mantilla CB. Correlation of respiratory activity of contralateral diaphragm muscles for evaluation of recovery following hemiparesis. Annu Int Conf IEEE Eng Med Biol Soc 2009; 2009: 404-407
    PubMedSearch in Google Scholar