Spinal Musküler Atrofi (SMA) ve Tıbbi Beslenme Tedavisi

Abstract

Spinal musküler atrofi hastalığı dört farklı tipi bulunan nöromusküler bir hastalıktır. Hastalığın tedavisinde ilaç ve gen tedavisi gibi yöntemler kullanılmakla beraber kanıtlanmış net bir tedavi bulunmamaktadır. Tedavi genel olarak hastalığın semptomlarını kontrol altına almaya dayanmaktadır. Beslenme sorunlarının başında yutma güçlüğü, gastroözofageal reflü ve gastrointestinal disfonksiyon gelmektedir. Hastalık tiplerine göre değişen bu sorunlar hastanın büyüme ve gelişimini olumsuz etkilediği gibi diğer semptomları tetikleyerek hastanın yaşam kalitesini düşürmektedir. Beslenme sorunlarının önlenmesi ve hastalığın yönetimi için hastanın semptomlarına göre bireyselleştirilmiş tıbbi beslenme tedavisi büyük önem taşımaktadır. Bu tedavi, multidisipliner bir ekip tarafından hazırlanmakta ve uzman diyetisyenler tarafından takip edilmektedir. Tıbbi beslenme tedavisi yönetimi detaylı anamnez alımı, antropometrik, kimyasal ve laboratuvar bulgularının değerlendirilmesi, enerji ve besin ögeleri gereksinimlerinin hesaplanması, uygun beslenme yolunun seçilip uygulanması, yakından takip ve değerlendirme şeklinde yapılmaktadır. Bu süreçte hastanın enerji gereksinimi hesaplanırken hastalar için geliştirilmiş özel formüllerin kullanılması önerilmektedir. Hastalarda uygulanabilecek diyet çeşitleri ve diyetin içeriği üzerine yapılmış çalışmalar oldukça sınırlıdır. Tıbbi beslenme tedavisinde temel yaklaşım diyetisyen tarafından yakın takip ile antropometrik ve biyokimyasal bulgulara dayanarak diyetinin düzenlenmesi ve kontrolüne dayanmaktadır. Hastalarda optimal beslenmenin gerekliliklerinin belirlenebilmesi için acil olarak iyi planlanmış ileri çalışmalara ihtiyaç duyulmaktadır.

Keywords

• Spinal musküler atrofi
• Tıbbi beslenme tedavisi
• Beslenme

Spinal Muscular Atrophy (SMA) and Medical Nutrition Therapy

Abstract

Spinal muscular atrophy disease is a neuromuscular disease with four different types. Although methods such as drug and gene therapy are used in the treatment of the disease, there is no proven treatment. Treatment is generally based on controlling the symptoms of the disease. Difficulty in swallowing, gastroesophageal reflux and gastrointestinal dysfunction are the leading nutritional problems. These problems, which vary according to the disease’s type, affect the growth and development of the patient negatively and reduce the patient’s quality of life by triggering other symptoms. Medical nutrition therapy, individualized according to the patient’s symptoms, is of great importance for the prevention of nutritional problems and the management of the disease. This treatment is prepared by a multidisciplinary team and followed by expert dietitians. Medical nutrition therapy management is carried out in the form of detailed anamnesis, evaluation of anthropometric, chemical and laboratory findings, calculation of energy and nutrient requirements, choosing and applying the appropriate nutrition route, close monitoring and evaluation. In this process, it is recommended to use special formulas developed for patients while calculating the patient’s energy requirement. Studies on the types of diet that can be applied to patients and the content of the diet are quite limited. The basic approach in medical nutrition treatment is based on close follow-up by the dietician and the regulation and control of the diet based on anthropometric and biochemical findings. Well-planned further studies are urgently needed to determine the requirements for optimal nutrition in patients.

Keywords

• Spinal muscular atrophy
• Medical nutrition therapy
• Nutrition

References

1. 1. Mercuri E, Bertini E, Iannaccone ST. Childhood spinal muscular atrophy: controversies and challenges. Lancet Neurol 2012;11(5):443-52.
2. 2. Munsat TL, Davies KE. International SMA consortium meeting. (26-28 June 1992, Bonn, Germany). Neuromuscul Disord 1992;2:423-8.
3. 3. Wang CH, Finkel RS, Bertini ES, Schroth M, Simonds A, Wong B, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol 2007;22(8):1027-49.
4. 4. Lally C, Jones C, Farwell W, Reyna SP, Cook SF, Flanders WD. Indirect estimation of the prevalence of spinal muscular atrophy Type I, II, and III in the United States. Orphanet J Rare Dis 2017;12(1):1-6.
5. 5. Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophydetermining gene. Cell 1995;80(1):155-65.
6. 6. Wirth B, Herz M, Wetter A, Moskau S, Hahnen E, Rudnik-Schöneborn S, et al. Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. Am J Hum Genet 1999;64(5):1340- 56.
7. 7. Calucho M, Bernal S, Alias L, March F, Vencesla A, Rodrigues-Alveres FJ, et al. Correlation between SMA type and SMN2 copy number revisited: an analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases. Neuromuscul Disord 2018;28(3):208–15.
8. 8. Wirth B, Garbes L, Riessland M. How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches. Curr Opin Genet Dev 2013;23(3):330–8.

9. 9. Canpolat M, Bayram AK, Bahadır O, Hüseyin PER, Gümüş H, Dundar M et al. Spinal musküler atrofi olgularının klinik özellikleri. J Curr Pediatr 2016;14(1):18-22.
10. 10. Dangouloff T, Servais L. Clinical evidence supporting early treatment of patients with spinal muscular atrophy: current perspectives. Ther Clin Risk Manag 2019;15:1153-61.
11. 11. Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, et al. Nusinersen versus sham control in later-onset spinal muscular atrophy. N Engl J M 2018;378(7):625– 35.
12. 12. Darras BT, Chiriboga CA, Iannaccone ST, Swoboda KJ, Montes J, Mignon L, et al. Nusinersen in later-onset spinal muscular atrophy: long-term results from the phase 1/2 studies. Neurology 2019;92(21):e2492-e506.
13. 13. Pane M, Coratti G, Sansone VA, Messina S, Bruno C, Catteruccia M, et al. Nusinersen in type 1 spinal muscular atrophy: Twelve‐month real‐world data. Ann Neurol 2019;86(3):443-51.
14. 14. Avexis. What is ZOLGENSMA? Published 2019 (cited 2021 Feb 1) Available from: https://www. zolgensma.com/what-is-zolgensma.
15. 15. Sproule DM, Hasnain R, Koenigsberger D, Montgomery M, De Vivo DC, Kaufmann P. Age at disease onset predicts likelihood and rapidity of growth failure among infants and young children with spinal muscular atrophy types 1 and 2. J Child Neurol 2012;27(7):845-51.
16. 16. Heul AMB, Cuppen I, Wadman RI, Asselman F, Schoenmakers MAGC, van de Woude DR, et al. Feeding and swallowing problems in ınfants with spinal muscular atrophy type 1: an observational study. J Neuromuscul Dis 2020;7(3):323-30.
17. 17. Wadman RI, van Bruggen HW, Witkamp TD, Sparreboom-Kalaykova SI, Stam M, van den Berg LH, et al. Bulbar muscle MRI changes in patients with SMA with reduced mouth opening and dysphagia. Neurology 2014;83(12):1060-66.
18. 18. Mehta NM, Newman H, Tarrant S, Graham RJ. Nutritional status and nutrient intake challenges in children with spinal muscular atrophy. Pediatr Neurol 2016;57:80-3.
19. 19. Zhou Y, Chen J, Gong X, Lu Z, Hua H, Zhu X, et al. Nutrition status survey of type 2 and 3 spinal muscular atrophy in Chinese population. Nutr Neurosci 2021;1-7.
20. 20. Chen YS, Shih HH, Chen TH, Kuo CH, Jong YJ. Prevalence and risk factors for feeding and swallowing difficulties in spinal muscular atrophy types II and III. J Pediatr 2012;160(3):447-51.
21. 21. Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, et al. Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord 2018;28(2):103-15.
22. 22. Messina S, Pane M, De Rose P, Vasta I, Sorleti D, Aloysius A, et al. Feeding problems and malnutrition in spinal muscular atrophy type II. Neuromuscul Disord 2008;18(5):389-93.
23. 23. Romano C, Van Wynckel M, Hulst J, Broekaert I, Bronsky J, Dall’Oglio L, et al. European Society for Paediatric Gastroenterology, Hepatology and Nutrition guidelines for the evaluation and treatment of gastrointestinal and nutritional complications in children with neurological impairment. J Pediatr Gastroenterolog Nutr 2017;65(2):242-64.
24. 24. Poyraz T, Demir S. Çocuklarda nörolojik öykü alma ve muayene. In: Erdoğan F, Demir S, Poyraz T, editors. Süt Çocuğu ve Çocuklarda Nörolojik Değerlendirme. İstanbul: Galenos Yayınevi; 2018.p.1-6.
25. 25. Sproule DM, Montes J, Montgomery M, Battista V, Koenigsberger D, Shen W, et al. Increased fat mass and high incidence of overweight despite low body mass index in patients with spinal muscular atrophy. Neuromuscul Disord 2009;19(6):391-6.
26. 26. Kaufmann P, McDermott MP, Darras BT, Finkel RS, Sproule DM, Kang PB, et al. Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurology 2012;79(18): 1889-97.
27. 27. Sproule DM, Punyanitya M, Shen W, Dashnaw S, Martens B, Montgomery M, et al. Muscle volume estimation by magnetic resonance imaging in spinal muscular atrophy. J Child Neurol 2011;26(3):309-17.
28. 28. Vai S, Bianchi ML, Moroni I, Mastella C, Broggi F, Morandi L, et al. Bone and spinal muscular atrophy. Bone 2015;79:116-20.
29. 29. Sproule DM, Montes J, Dunaway S, Montgomery M, Battista V, Koenigsberger D, et al. Adiposity is increased among high-functioning, nonambulatory patients with spinal muscular atrophy. Neuromuscul Disord 2010;20(7):448- 52.
30. 30. Moore GE, Lindenmayer AW, McConchie GA, Ryan MM, Davidson ZE. Describing nutrition in spinal muscular atrophy: A systematic review. Neuromuscul Disord 2016;26(7):395- 404.
31. 31. Cutillo L, Pizziconi C, Tozzi AE, Verrillo E, Testa MBC, Cutrera R. Predicted and measured resting energy expenditure in children with spinal muscular atrophy 2. J Pediatr 2014;164(5):1228- 30.
32. 32. Bertoli S, De Amicis R, Mastella C, Pieri G, Giaquinto E, Battezzati A, et al. spinal muscular atrophy, types I and II: What are the differences in body composition and resting energy expenditure?. Clin Nutr 2017;36(6):1674-80.
33. 33. Baranello G, De Amicis R, Arnoldi MT, Zanin R, Mastella C, Masson R, et al. Evaluation of body composition as a potential biomarker in spinal muscular atrophy. Muscle Nerve 2020;61(4):530-4.
34. 34. Bertoli S, De Amicis R, Bedogni G, Foppiani A, Leone A, Ravella S, et al. Predictive energy equations for spinal muscular atrophy type I children. Am J Clin Nutr 2020;111(5):983-96.
35. 35. JSCalc.io. (cited 2020 Nov 02). Available from: https://jscalc.io/calc/Q91zp6clkwI9PVBn.
36. 36. Poruk KE, Davis RH, Smart AL, Chisum BS, LaSalle BA, Chan GM., et al. Observational study of caloric and nutrient intake, bone density, and body composition in infants and children with spinal muscular atrophy type I. Neuromuscul Disord 2012;22(11):966-73.
37. 37. Deguise MO, Chehade L, Tierney A, Beauvais A, Kothary R. Low fat diets increase survival of a mouse model of spinal muscular atrophy. Ann Clin Transl Neurol 2019;6(11):2340-46.
38. 38. Deguise MO, Baranello G, Mastella C, Beauvais A, Michaud J, Leone A, et al. Abnormal fatty acid metabolism is a core component of spinal muscular atrophy. Ann Clin Transl Neurol 2019;6(8):1519-32.
39. 39. Sproule, DM. General nutrition guidelines for SMA children. (cited 2020 Nov 02). Available from: http://columbiasma.org/docs/living/ General-Nutrition-Guidelines-in-SMANutrition- Handout.pdf.
40. 40. Choi YA, Suh DI, Chae JH, Shin HI. Trajectory of change in the swallowing status in spinal muscular atrophy type I. Int J Pediatr Otorhinolaryngol 2020;130:109818.
41. 41. Schottlaender L, Scoto M, Imbrigiotta N, Davis T, Main M, Munot P, et al. Nutritional status of a large cohort of children with spinal muscular atrophy type 2 (SMA2). Neuromuscul Disord 2017;27:S133.
42. 42. Wadman RI, De Amicis R, Brusa C, Battezzati A, Bertoli S, Davis T, et al. Feeding difficulties in children and adolescents with spinal muscular atrophy type 2. Neuromuscul Disord. 2021;31(2):101-12.
43. 43. Van den Engel-Hoek L, Erasmus CE, Van Bruggen HW, De Swart BJM, Sie LTL, Steenks MH, et al. Dysphagia in spinal muscular atrophy type II: more than a bulbar problem? Neurology 2009;73(21):1787-91.
44. 44. Bowerman M, Swoboda KJ, Michalski JP, Wang GS, Reeks C, Beauvais A, et al. Glucose metabolism and pancreatic defects in spinal muscular atrophy. Ann Neurol 2012;72(2):256- 68.
45. 45. Davis RH, Miller EA, Zhang RZ, Swoboda KJ. Responses to fasting and glucose loading in a cohort of well children with spinal muscular atrophy type II. J Pediatr 2015;167(6):1362-8.
46. 46. Demir N. Pediatrik nöromusküler hastalıklarda yutma rehabilitasyonu. Karaduman AA, editör. Nöromusküler Hastalıklarda Fizyoterapi ve Rehabilitasyon. 1. Baskı. Ankara: Türkiye Klinikleri, 2020. p.82-8.
47. 47. Müftüoğlu S. Akalazyada beslenme. Güncel Gastroenteroloji 2016;20(3):201-3.
48. 48. Kürklü N, Kaner G. Gastroözofageal reflü hastalığında beslenmeye güncel bakış. Güncel Gastroenteroloji 2015;19(3):139-41.
49. 49. Davis RH, Godshall BJ, Seffrood E, Marcus M, LaSalle BA, Wong B, et al. Nutritional practices at a glance: spinal muscular atrophy type I nutrition survey findings. J Child Neurol 2014;29(11):1467-72.