Highlights
- 1Muscle fasciculation are frequent in SMA.
- 2Fasciculation differs later-onset SMA from genetic muscle disease.
- 3Physical examination and muscular ultrasound are feasible for fasciculation detection.
- 4Muscular ultrasound was the best modality to look for fasciculation in SMA.
Abstract
Diagnosis of later-onset spinal muscular atrophy (SMA) can be challenging. This study
aimed to evaluate the diagnostic properties of the detection of muscle fasciculations
for SMA diagnosis in adolescents and adults with proximal muscle weakness. A cross-sectional
diagnostic accuracy study was performed, in which 10 subjects with SMA (5 with type
II and 5 with type III) and 9 subjects with genetic muscle diseases were evaluated
by physical examination, muscle ultrasound (MUS) and electromyography (EMG). Inter-rater
reliability of MUS was higher than physical examination and in a sensitivity analysis
of MUS, all SMA subjects and a single patient with genetic muscle disease presented
fasciculations in at least 2 different muscle groups, resulting in a sensitivity of
1 (95% CI: 0.69 to 1) and a specificity of 0.89 (95% CI: 0.52 to 1) for SMA diagnosis.
Forty-two percent of evaluated subjects did not agree to perform EMG, limiting this
method results. Muscle ultrasound presented the best diagnostic accuracy and physical
examination combined with MUS seemed to be a good strategy for screening adolescents
and adults with proximal muscle weakness for SMA. These results might improve diagnostic
guidelines for later-onset SMA, leading to earlier diagnosis, treatment and specific
care.
Keywords
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Article info
Publication history
Published online: July 12, 2022
Accepted:
July 10,
2022
Received in revised form:
June 29,
2022
Received:
September 11,
2021
Identification
Copyright
© 2022 Elsevier B.V. All rights reserved.
