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. 2023 Sep 30;42(2-3):65-70.
doi: 10.36185/2532-1900-330. eCollection 2023.

Proposal of a new clinical protocol for evaluating fatigability in adult SMA patients

Giulia Ricci  1 , Francesca Torri  1 , Alessandra Govoni  1 , Roberto Chiappini  1 , Laura Manca  2 , Gabriele Vadi  1 , Stefano Roccella  3 , Francesca Magri  4 , Megi Meneri  4 , Federica Fassini  4 , Veria Vacchiano  5 , Silvia Tomassini  6 , Noemi Gironella  6 , Michela Coccia  6 , Giacomo Comi  4 , Rocco Liguori  5 , Gabriele Siciliano  1
Affiliations

Proposal of a new clinical protocol for evaluating fatigability in adult SMA patients

Giulia Ricci et al. Acta Myol. .

Abstract

Objective: Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disease affecting the lower motor neuron, carrying a significant burden on patients' general motor skills and quality of life, characterized by a great variability in phenotypic expression. As new therapeutic options make their appearance on the scene, sensitive clinical tools and outcome measures are needed, especially in adult patients undergoing treatment, in which the expected clinical response is a mild improvement or stabilization of disease progression.

Methods: Here, we describe a new functional motor scale specifically designed for evaluating the endurance dimension for the upper and lower limbs in adult SMA patients.

Results: The scale was first tested in eight control healthy subjects and then validated in ten adult SMA patients, proving intra- and inter-observer reliability. We also set up an evaluation protocol by using wearable devices including surface EMG and accelerometer.

Conclusions: The endurance evaluation should integrate the standard clinical monitoring in the management and follow-up of SMA adult patients.

Keywords: adult spinal muscular atrophy; clinical protocol; outcome measure; physical endurance.

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Conflict of interest statement

Authors have no conflict of interest to disclose.

Figures

Figure 1.
Figure 1.
AUTOMA: wearable system to asses EMG and joint angles while performing ENDUSMA scale. Panel A: AUTOMA for shoulder measurements; Panel B: AUTOMA for hip measurement. (1) dual axes electro-goniometer Biometrics SG150 model; (2) Adjustable harness; (3) Goniometer end-block cases; (4) Adjustable hinge joint; (5) Biosignalplux electronic module; (6) BITalino electronic module; (7) EMG electrodes for deltoid activity measurement; (8) Accelerometer; (9) EMG reference electrode.
See this image and copyright information in PMC

References

    1. Rouzier C, Chaussenot A, Paquis-Flucklinger V. Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA). Arch Pediatr 2020;27(7S):7S9-7S14. https://doi.org/10.1016/S0929-693X(20)30270-0 10.1016/S0929-693X(20)30270-0 - DOI - PubMed
    1. Coratti G, Ricci M, Capasso A, et al. . Prevalence of spinal muscular atrophy in the era of disease-modifying therapies: an Italian Nationwide Survey. Neurology 2023;100:522-528. https://doi.org/10.1212/WNL.0000000000201654 10.1212/WNL.0000000000201654 - DOI - PMC - PubMed
    1. Zerres K, Rudnik-Schoneborn S. Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol 1995;52:518-523. https://doi.org/10.1001/archneur.1995.00540290108025 10.1001/archneur.1995.00540290108025 - DOI - PubMed
    1. Chaytow H, Faller K, Huang YT, et al. . Spinal muscular atrophy: from approved therapies to future therapeutic targets for personalized medicine. Cell Rep Med 2021;2:100346. https://doi.org/10.1016/j.xcrm.2021.100346 10.1016/j.xcrm.2021.100346 - DOI - PMC - PubMed
    1. Schorling DC, Pechmann A, Kirschner J. Advances in treatment of spinal muscular atrophy - new phenotypes, new challenges, new implications for care. J Neuromuscul Dis 2020;7:1-13. https://doi.org/10.3233/JND-190424 10.3233/JND-190424 - DOI - PMC - PubMed