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Motor function measures in adult paients with spinal muscular atrophy


Authors: D. Botiková D 1,2;  T. Horák 2;  S. Voháňka 2
Authors‘ workplace: Rehabilitační oddělení, FN Brno 1;  ERN-EURO NMD Centrum, Neurologická klinika LF MU a FN Brno 2
Published in: Cesk Slov Neurol N 2020; 83/116(Supplementum 2): 27-30
doi: https://doi.org/10.48095/cccsnn20202S27

Overview

Along with the advance in wholesome/ overall care and its availability to patients with spinal muscular atrophy, longevity in this population has increased. This, however, brings up new questions and challenges to professionals in the neuromuscular field. Nowadays, with the development of therapeutic strategies modifying the course of the disease, and with availability of other symptomatic interventions, the need of outcome measures, which can follow the natural trajectory of the disease, and the effect of the therapy is emphasised. To observe the whole spectrum of motor functions, a very sensitive, reliable and clinically meaningful tool is necessary. However, it might be challenging to find suitable assessment methods which can capture complaints of very weak patients and, at the same time, meaningful aspects of much stronger individuals. That’s why the overall assessment should consist of tools measuring the muscle strength, range of motion in joints, relevant motor function scales and timed assessments reflecting patients’ activities of daily life. 

Keywords:

spinal muscular atrophy – functional assesment – motor scales


Sources

1. Mercuri E, Finkel R, Montes J et al. Patterns of disease progression in type 2 and 3 SMA: implications for clinical trials. Neuromuscul Disord 2016; 26(2): 126–131. doi: 10.1016/ j.nmd.2015.10.006.

2. Montes J, McDermott MP, Mirek E et al. Ambulatory function in spinal muscular atrophy: age-related patterns of progression. PLoS ONE 2018; 13(6): e0199657. doi: 10.1371/ journal.pone.0199657.

3. Shefner JM. Strength testing in motor neuron diseases. Neurotherapeutics 2017; 14(1): 154–160. doi: 10.1007/ s13311-016-0472-0.

4. Werlauff U, Steffensen BF, Bertelsen S et al. Physical characteristics and applicability of standard assessment methods in a total population of spinal muscular atrophy type II patients. Neuromuscul Disord 2010; 20(1): 34–43. doi: 10.1016/ j.nmd.2009.11.008.

5. Werlauff U, Vissing J, Steffensen BF. Change in muscle strength over time in spinal muscular atrophy types II and III. A long-term follow-up study. Neuromuscul Disord 2012; 22(12): 1069–1074. doi: 10.1016/ j.nmd.2012.06.352.

6. Werlauff U, Fynbo Steffensen B. The applicability of four clinical methods to evaluate arm and hand function in all stages of spinal muscular atrophy type II. Disabil Rehabil 2014; 36(25): 2120–2126. doi: 10.3109/ 09638288.2014.892157.

7. Finkel RS, Mercuri E, Meyer OH et al. Dia­gnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord 2018; 28(3): 197–207. doi: 10.1016/ j.nmd.2017.11.004.

8. Sharma R, Wolfe L. Use of non-invasive ventilation in neuromuscular disease. Current Sleep Medicine Reports 2017; 3(4): 290–298. doi: 10.1007/ s40675-017-0097-9.

9. Benditt JO. Pathophysiology of neuromuscular respiratory diseases. Clin Chest Med 2018; 39(2): 297–308. doi: 10.1016/ j. ccm.2018.01.011.

10. Kolář P et al. Rehabilitace v klinické praxi. Praha: Galén 2009.

11. Pera MC, Coratti G, Forcina N et al. Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy. BMC Neurol 2017; 17(1): 39. doi: 10.1186/ s12883-017-0790-9.

12. Bérard C, Payan C, Hodgkinson I et al. A motor function measure for neuromuscular diseases. Construction and validation study. Neuromuscul Disord 2005; 15(7): 463–470. doi: 10.1016/ j.nmd.2005.03.004.

13. Glanzman AM, O’Hagen JM, McDermott MP et al. Validation of the Expanded Hammersmith FunctionalMotor Scale in spinal muscular atrophy type II and III.J Child Neurol 2011; 26(12): 1499–1507. doi: 10.1177/ 088307 3811420294.

14. O’Hagen J, Glanzman A, McDermott M et al. Anexpanded version of the Hammersmith Functio­nalMotor Scale for SMA II and III patients. Neuro­musculDisord 2007; 17(9–10): 693–697. doi: 10.1016/ j.nmd.2007.05.009.

15. Sivo S, Mazzone E, Antonaci L et al. Upper limb module in non-ambulant patients with spinal muscular atrophy: 12 month changes. Neuromuscul Disord 2015; 25(3): 212–215. doi: 10.1016/ j.nmd.2014.11.008.

16. Carter GT, Abresch RT, Fowler WM et al. Profiles of neuromuscular diseases. Spinal muscular atrophy. Am J Phys Med Rehabil 1995; 74 (5 Suppl): S150–S159. doi: 10.1097/ 00002060-199509001-00009.

17. Merlini L, Bertini E, Minetti C et al. Motor function-muscle strength relationship in spinal muscular atrophy. Muscle Nerve 2004; 29(4): 548–552. doi: 10.1002/ mus.20018.

18. Mazzone ES, Mayhew A, Montes J et al. Revised upper limb module for spinal muscular atrophy: development of a new module. Muscle Nerve 2017; 55(6): 869–874. doi: 10.1002/ mus.25430.

19. Pera MC, Coratti G, Mazzone ES et al. Revised upper limb module for spinal muscular atrophy: 12 month changes. Muscle Nerve 2019; 59(4): 426–430. doi: 10.1002/ mus.26419.

20. Steffensen B, Mayhew A, Aloysius A. Egen Klassifikation (EK) revisited in spinal muscular atrophy. Neuromuscul Disord 2008; 18: 740–741. doi: 10.1016/ j.nmd.2008.06.059.

21. Steffensen B, Hyde S, Lyager S et al. Validity of the EK scale: a functional assessment of non-ambulatory individuals with Duchenne muscular dystrophy or spinal muscular atrophy. Physiother Res Int 2001; 6(3): 119–134. doi: 10.1002/ pri.221.

22. Groot I, Witte L. Physical complaints occurring in aging persons with spinal muscular atrophy. J Rehabil Med 2005; 37(4): 258–262. doi: 10.1080/ 16501970510030156.

23. McDonald CM, Henricson EK, Han JJ et al. The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy. Muscle Nerve 2010; 41(4): 500–510. doi: 10.1002/ mus.21544.

24. Montes J, Gordon A, Pandya S et al. Clinical outcome measures in spinal muscular atrophy. J Child Neurol 2009; 24(8): 968–978. doi: 10.1177/ 0883073809332702.

25. Montes J, McDermott MP, Martens WB et al. Six--Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy. Neurology 2010; 74(10): 833–838. doi: 10.1212/ WNL.0b013e3181d3e308.

26. Dunaway Young S, Montes J, Kramer SS et al. Six--minute walk test is reliable and valid in spinal muscular atrophy. Muscle Nerve 2016; 54(5): 836–842. doi: 10.1002/ mus.25120.

27. Alfano LN, Miller NF, Berry KM et al. The 100-meter timed test: normative data in healthy males and comparative pilot outcome data for use in Duchenne muscular dystrophy clinical trials. Neuromuscul Disord 2017; 27(5): 452–457. doi: 10.1016/ j.nmd.2017.02.007.

28. Kruitwagen-Van Reenen ET, Wadman RI, Visser--Meily JM et al. Correlates of health related quality of life in adult patients with spinal muscular atrophy. Muscle Nerve 2016; 54(5): 850–855. doi: 10.1002/ mus.25148.

29. Mercuri E, Finkel RS, Muntoni F et al. Dia­gnosis and management of spinal muscular atrophy: Part 1: Recommendations for dia­gnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul. Disord 2018; 28(2): 103–115. doi: 10.1016/ j.nmd.2017.11.005.

30. Strenková J, Voháňka S, Šnajdrová L et al. REaDY – český registr svalových dystrofií. Cesk Slov Neurol N 2014; 77/ 110(2): 230–234.

Labels
Paediatric neurology Neurosurgery Neurology
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