A continuous repetitive task to detect fatigability in spinal muscular atrophy

Orphanet Journal of Rare Diseases

Bart Bartels¹  Leonard H. van den Berg²  Marloes Stam²  Renske I. Wadman²  Maureen Leeuw²  Camiel A. Wijngaarde²  W. Ludo van der Pol²  Henk-Jan Westeneng² 

[1] Child Development and Exercise Center, Wilhelmina Children’s Hospital, Utrecht University, University Medical Center Utrecht;Department of Neurology, Brain Center Rudolf Magnus Institute of Neuroscience, Utrecht University, University Medical Center Utrecht;

关键词: Neuromuscular disease;    Spinal muscular atrophy;    SMA;    Clinical neurology;    Fatigability;    Outcome measure;   

DOI  :  10.1186/s13023-018-0904-5

来源: DOAJ

【 摘 要 】

Abstract Background To determine the value of a continuous repetitive task to detect and quantify fatigability as additional dimension of impaired motor function in patients with hereditary proximal spinal muscular atrophy (SMA). Results In this repeated measure case-control study 52 patients with SMA types 2–4, 17 healthy and 29 disease controls performed five consecutive rounds of the Nine-Hole Peg test to determine the presence of fatigability. We analysed differences in test performance and associations with disease characteristics. Five patients with SMA type 2 (22%) and 1 disease control (3%) could not finish five rounds due to fatigue (p = 0.01). Patients with SMA type 2 performed the test significantly more slowly than all other groups (p < 0.005) and disease controls were slower than healthy controls (p < 0.05). Patients with SMA type 2 performed round five 27% slower than round one, while healthy controls performed round five 14% faster than round one (p = 0.005). There was no difference between SMA type 3a, type 3b/4 or disease controls and healthy controls (p > 0.4). Time needed to complete each round during the five-round task increased in 15 patients with SMA type 2 (65%), 4 with type 3a (36%), 4 with type 3b/4 (22%), 9 disease controls (31%) and 1 healthy control (6%). There was no effect of age at disease onset or disease duration in SMA type 2 (p = 0.39). Test-retest reliability was high. Conclusion Fatigability of remaining arm function is a feature of SMA type 2 and can be determined with continuous repetitive tasks.

【 授权许可】

Unknown