Introduction: Spinal muscular atrophy is a genetic neuromuscular disease affecting the alpha motor neurons of the anterior horn of the spinal cord. It manifests as muscle atrophy and weakness. Patients with spinal muscular atrophy are divided into five subtypes according to their age at onset and their peak functional ability. Purpose: We aimed to determine whether patients with spinal muscular atrophy are more susceptible to performance fatigability of the arm muscles compared with healthy subjects by performing the Nine-Hole Peg Test ten times. We were interested in whether there was a difference in perceived fatigue between the two aforementioned groups and whether there was a correlation between the functional scales and performance fatigability of arm muscles in patients with spinal muscular atrophy. Methods: The study included 20 adult patients with spinal muscular atrophy and 20 healthy subjects with similar demographics. All of them performed the Nine-Hole Peg 10 times continuously with the dominant hand to assess performance fatigability and then completed the Fatigue Severity Scale. In addition, we obtained previously collected data from two functional scales, namely the Expanded Hammersmith Functional Motor Scale and the Revised Upper Limb Module. Results: We found that patients with spinal muscular atrophy had a longer time to perform each execution of the Nine-Hole Peg Test compared to healthy subjects. Patients with spinal muscular atrophy type 2 are more susceptible to performance fatigability of the arm muscles compared to patients with spinal muscular atrophy type 3/4. Patients with spinal muscular atrophy had higher score on the Fatigue Severity Scale than healthy subjects. In patients with spinal muscular atrophy, there is a strong negative correlation between the time of performing 10 executions of the Nine-Hole Peg Test and the functional scales. Discussion and conclusion: Patients with spinal muscular atrophy are susceptible to performance fatigability and report greater perceived fatigue. Both have a significant impact on the quality of life, and future monitoring of the effects of new medications should also assess the impact on performance fatigability and perceived fatigue. They should also be included in the planning of physiotherapy treatment.
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