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


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.


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Swoboda KJ, Prior TW, Scott CB, et al. Natural history of denervation in SMA: relation to age, SMN2 copy number, and function // Ann Neurol 2005; 57(5) : 704–12.

Sugarman E. A., Nagan N., Zhu H., Akmaev V. R., Zhou Z., Rohlfs E. M., Flynn K., Hendrickson B. C., Scholl T., Sirko-Osadsa D. A., Allitto B. A. Panethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens. (англ.) // European journal of human genetics : EJHG. – 2012. – Vol. 20, no. 1. – P. 27– 32. – DOI: 10.1038/ejhg. 2011.134.

V. A. Sansone, et al. 1st Italian SMA Family Association Consensus Meeting: Management and recommendations for respiratory involvement in spinal muscular atrophy (SMA) types I–III, Rome, Italy// NeuromuscularDisorders 25 (2015) 979–989.

Wanke T, Toifl K, Merkle M, Formanek D, Lahrmann H, Zwick H. Inspiratory muscle training in patients with Duchenne muscular dystrophy // Chest 1994; 105(2) : 475–82.

Mellies U, Ragette R, Schwake C, Baethmann M, Voit T, Teschler H. Sleep-disordered breathing and respiratory failure in acid maltase deficiency// Neurology 2001; 57(7) : 1290–5.

Vianello A, Corrado A, Arcaro G, et al. Mechanical insufflation-exsufflation improves outcomes for neuromuscular disease patients with respiratory tract infections // Am J Phys Med Rehabil.

Chung BH, Wong VC, Ip P. Spinal muscular atrophy: survival pattern and functional status. Pediatrics 2004; 114(5) : e548–53.

Bach JR, Gupta K, Reyna M, Hon A. Spinal muscular atrophy type 1: prolongation of survival by noninvasive respiratory aids // PediatrAsthma Allergy Immunol 2009; 22(4) : 151–62.

Bach JR, Vega J, Majors J, Frieman A. Spinal muscular atrophy type 1 quality of life // Am J Phys Med Rehabil 2003; 82(2) : 137–42.

Wang CH, Finkel RS, Bertini ES, et al. Consensus statement for standard of care in spinal muscular atrophy // J ChildNeurol 2007 ; 22(8) : 1027–49.

Ioos C, Leclair-Richard D, Mrad S, Barois A, Estournet-Mathiaud B. Respiratory capacity course in patients with infantile spinal muscular atrophy // Chest 2004; 126(3) : 831–7.

Wallgren-Pettersson C, Bushby K, Mellies U, et al. 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 // NeuromusculDisord 2004; 14(1) : 56–69.

Mercuri E, Bertini E, Iannaccone ST. Childhood spinal muscular atrophy: controversies and challenges // Lancet Neurol 2012; 11(5) : 443–52.

Bersanini C, Khirani S, Ramirez A, et al. Nocturnal hypoxaemia and hypercapnia in children with neuromuscular disorders // EurRespir J 2012; 39 : 1206–12.

Puruckherr M, Mehta JB, Girish MR, Byrd RP Jr, Roy TM. Severe obstructive sleep apnea in a patient with spinal muscle atrophy // Chest 2004; 126(5) : 1705–7.

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.

Bush A, Fraser J, Jardine E, Paton J, Simonds A, Wallis C. Respiratory management of the infant with type 1 spinal muscular atrophy // ArchDisChild 2005; 90(7) : 709–11.

Ward S, Chatwin M, Heather S, Simonds AK. Randomised controlled trial of non-invasive ventilation (NIV) for nocturnal hypoventilation in neuromuscular and chest wall disease patients with daytime normocapnia // Thorax 2005; 60(12) : 1019–24.

Hull J, Aniapravan R, Chan E, et al. British Thoracic Society guideline for respiratory management of children with neuromuscular weakness // Thorax 2012; 67(Suppl. 1) : i1

Влодавец Д. В, Харламов Д. А., Артемьева С. Б., Белоусова Е. Д. Федеральные клинические рекомендации (протоколы) по диагностике и лечению спинальных мышечных атрофий у детей. Москва. 2013 г.

Ching H. et al. Consensus statement in standart of care in SMA // JChildNeurology 2007; 22; 1027

Симаходский А. С.,. Ткаченко А., Хронические прогрессирующие заболевания у детей, требующие принятия медико-социальных решений. С-Петербург, 2014 г.

How to Cite
Artemenko VY, Plotna EV. Review of respiratory therapies in patients with spinal muscular atrophy. prmd [Internet]. 16May2018 [cited 17Dec.2018];1(1):10-7. Available from: