Review of respiratory therapies in patients with spinal muscular atrophy

  • V. Yu. Artemenko Medical Center MEDICAP, Odessa
  • E. V. Plotna Medical Center MEDICAP, Odessa
Keywords: spinal muscular atrophy, respiratory support, noninvasive ventilation, hypoventilation

Abstract

The purpose of this article was to systematize available literary data and to provide general recommendations for respiratory therapy in patients with spinal muscular atrophy. Spinal muscular atrophy (SMA) is a severe neuromuscular disease with autosomal recessive inheritance with degeneration of alpha motor neurons in the anterior horns of the spinal cord, leading to progressive proximal muscle weakness and paralysis. SMN 1–2 genes potentially encode identical proteins, although most of the transcripts of the SMN1 genes are halfsized, whereas most transcripts of the SMN2 genes do not contain the seventh exon. Therefore, the SMN2 gene is only partially functional, and a low-level SMN protein is produced in SMA patients. Moreover, the number of copies of the SMN2 can not be considered an exact predictive factor for any particular patient. The main causes of mortality and deterioration in the quality of life are the development of secondary respiratory failure.

Type 1 (a, b, c) is the heaviest: early onset and lack of motor abilities, usually patients with a disease of this type survive no more than 2 years.

Type 2 – an intermediate type characterized by a later onset, the patient may take a sedentary position, survival may reach the adult height.

Type 3 is the softest form that manifests itself at the age of 1 year, the patient can walk and stand. The forecast is more favorable.

Type 4 “adult form” manifests itself at the age from 10 to 20 or from 20 to 30 years and has a favorable outlook.

The main causes of respiratory failure in patients with neuromuscular diseases are weakness of the respiratory muscles, unproductive cough and sleep disturbances. The weakness of the respiratory muscles, defined as the inability of resting respiratory muscles in the state of rest to create a normal level of pressure and air flow velocity when entering and exhaling, is common. Patients with neuromuscular diseases are susceptible to sleep disruption, especially in the REM sleep phase, with the most frequent form of this disorder being hypoventilation. Over time, hypoventilation in a dream can become more prolonged, resulting in the development of a severe form of hypoxia, an increase in the level of carbon dioxide in the blood and the suppression of the activity of the respiratory center. Thus, as a result of the review of literary data, a strategy of respiratory support in patients with CMA was proposed.

Downloads

Download data is not yet available.

References

Swoboda KJ, Prior TW, Scott CB, McNaught TP, Wride MC, Reyna SP, et al. Natural history of denervation in SMA: Relation to age, SMN2 copy number, and function. Annals of Neurology [Internet]. Wiley; 2005;57(5):704–12. Available from: https://doi.org/10.1002/ana.20473

Sugarman EA, Nagan N, Zhu H, Akmaev VR, Zhou Z, Rohlfs EM, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens. European Journal of Human Genetics [Internet]. Springer Nature; 2011 Aug 3;20(1):27–32. Available from: https://doi.org/10.1038/ejhg.2011.134

Sansone VA, Racca F, Ottonello G, Vianello A, Berardinelli A, Crescimanno G, et al. 1st Italian SMA Family Association Consensus Meeting: Neuromuscular Disorders [Internet]. Elsevier BV; 2015 Dec;25(12):979–89. Available from: https://doi.org/10.1016/j.nmd.2015.09.009

Wanke T, Toifl K, Merkle M, Formanek D, Lahrmann H, Zwick H. Inspiratory Muscle Training in Patients With Duchenne Muscular Dystrophy. Chest [Internet]. Elsevier BV; 1994 Feb;105(2):475–82. Available from: https://doi.org/10.1378/chest.105.2.475

Mellies U, Ragette R, Schwake C, Baethmann M, Voit T, Teschler H. Sleep-disordered breathing and respiratory failure in acid maltase deficiency. Neurology [Internet]. Ovid Technologies (Wolters Kluwer Health); 2001 Oct 9;57(7):1290–5. Available from: https://doi.org/10.1212/wnl.57.7.1290

Vianello A, Corrado A, Arcaro G, Gallan F, Ori C, Minuzzo M, et al. Mechanical Insufflation-Exsufflation Improves Outcomes for Neuromuscular Disease Patients with Respiratory Tract Infections. American Journal of Physical Medicine & Rehabilitation [Internet]. Ovid Technologies (Wolters Kluwer Health); 2005 Feb;84(2):83–8. Available from: https://doi.org/10.1097/01.phm.0000151941.97266.96

Chung BHY. Spinal Muscular Atrophy: Survival Pattern and Functional Status. PEDIATRICS [Internet]. American Academy of Pediatrics (AAP); 2004 Nov 1;114(5):e548–e553. Available from: https://doi.org/10.1542/peds.2004-0668

Bach JR, Gupta K, Reyna M, Hon A. Spinal Muscular Atrophy Type 1: Prolongation of Survival by Noninvasive Respiratory Aids. Pediatric Asthma, Allergy & Immunology [Internet]. Mary Ann Liebert Inc; 2009 Dec;22(4):151–62. Available from: https://doi.org/10.1089/pai.2009.0002

Bach JR, Vega J, Majors J, Friedman A. Spinal Muscular Atrophy Type 1 Quality of Life. American Journal of Physical Medicine & Rehabilitation [Internet]. Ovid Technologies (Wolters Kluwer Health); 2003 Feb;82(2):137–42. Available from: https://doi.org/10.1097/00002060-200302000-00009

Wang CH, Finkel RS, Bertini ES, Schroth M, Simonds A, Wong B, et al. Consensus Statement for Standard of Care in Spinal Muscular Atrophy. Journal of Child Neurology [Internet]. SAGE Publications; 2007 Aug;22(8):1027–49. Available from: https://doi.org/10.1177/0883073807305788

Ioos C, Leclair-Richard D, Mrad S, Barois A, Estournet-Mathiaud B. Respiratory Capacity Course in Patients With Infantile Spinal Muscular Atrophy. Chest [Internet]. Elsevier BV; 2004 Sep;126(3):831–7. Available from: https://doi.org/10.1378/chest.126.3.831

Wallgren-Pettersson C, Bushby K, Mellies U, Simonds A. 117th ENMC Workshop: Ventilatory Support in Congenital Neuromuscular Disorders — Congenital Myopathies, Congenital Muscular Dystrophies, Congenital Myotonic Dystrophy and SMA (II) 4–6 April 2003, Naarden, The Netherlands. Neuromuscular Disorders [Internet]. Elsevier BV; 2004 Jan;14(1):56–69. Available from: https://doi.org/10.1016/j.nmd.2003.09.003

Mercuri E, Bertini E, Iannaccone ST. Childhood spinal muscular atrophy: controversies and challenges. The Lancet Neurology [Internet]. Elsevier BV; 2012 May;11(5):443–52. Available from: https://doi.org/10.1016/s1474-4422(12)70061-3

Bersanini C, Khirani S, Ramirez A, Lofaso F, Aubertin G, Beydon N, et al. Nocturnal hypoxaemia and hypercapnia in children with neuromuscular disorders. European Respiratory Journal [Internet]. European Respiratory Society (ERS); 2011 Dec 1;39(5):1206–12. Available from: https://doi.org/10.1183/09031936.00087511

Puruckherr M, Mehta JB, Girish MR, Byrd RP, Roy TM. Severe Obstructive Sleep Apnea in a Patient With Spinal Muscle Atrophy. Chest [Internet]. Elsevier BV; 2004 Nov;126(5):1705–7. Available from: https://doi.org/10.1378/chest.126.5.1705

16.Bach JR, Saltstein K, Sinquee D, Weaver B, Komaroff E. Long¬term survival in Werdnig¬Hoffmann disease // Am J Phys Med Rehabil 2007; 86(5) : 339–45.

Bach JR, Saltstein K, Sinquee D, Weaver B, Komaroff E. Long-Term Survival in Werdnig-Hoffmann Disease. American Journal of Physical Medicine & Rehabilitation [Internet]. Ovid Technologies (Wolters Kluwer Health); 2007 May;86(5):339–45. Available from: https://doi.org/10.1097/phm.0b013e31804a8505

Ward S. Randomised controlled trial of non-invasive ventilation (NIV) for nocturnal hypoventilation in neuromuscular and chest wall disease patients with daytime normocapnia. Thorax [Internet]. BMJ; 2005 Dec 1;60(12):1019–24. Available from: https://doi.org/10.1136/thx.2004.037424

Hull J, Aniapravan R, Chan E, Chatwin M, Forton J, Gallagher J, et al. British Thoracic Society guideline for respiratory management of children with neuromuscular weakness. Thorax [Internet]. BMJ; 2012 Jun 22;67(Suppl 1):i1–i40. Available from: https://doi.org/10.1136/thoraxjnl-2012-201964

Vlodavets DV, Kharlamov DA, Artemeva SB, Belousova ED. Federalnye klinicheskie rekomendatsii protokoly po diagnostike i lecheniiu spinalnykh myshechnykh atrofii u detei (Federal clinical guidelines (protocols) for the diagnosis and treatment of spinal muscular atrophy in children). 2013; Available from: https://mz19.ru/upload/iblock/f0d/sma_0.doc (In Russian)

Wang CH, Finkel RS, Bertini ES, Schroth M, Simonds A, Wong B, et al. Consensus Statement for Standard of Care in Spinal Muscular Atrophy. Journal of Child Neurology [Internet]. SAGE Publications; 2007 Aug;22(8):1027–49. Available from: https://doi.org/10.1177/0883073807305788

Simakhodskii AS, Tkachenko A. KHronicheskie progressiruiushchie zabolevaniia u detei trebuiushchie priniatiia mediko-sotsialnykh reshenii (Chronic progressive diseases in children demanding medical and social decisions). Available from: https://dzhmao.ru/info/FilesDownload/126833-126879.pdf (In Russian)

Published
2018-05-16
How to Cite
1.
Artemenko VY, Plotna EV. Review of respiratory therapies in patients with spinal muscular atrophy. prmd [Internet]. 2018May16 [cited 2019Jul.22];1(1):10-7. Available from: https://perioperative.org.ua/index.php/prtmdc/article/view/13