Skeletal muscle strength |
Manual muscle testing (MMT)
Assessed based on Medical Research Council (MRC) grading scale, ranging from 0 to 5
Handheld dynamometry (HHD)
Measured in Newtons (N) and maximum isometric contraction values
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Vital capacity |
Recommended frequency: every 3–6 months [60]
Performed in the upright and supine positions
Formal pulmonary function testing (PFT) should be performed for patients with diaphragmatic weakness
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Functional exercise capacity |
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Quality of life |
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Hearing |
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Laboratory tests |
Performed every 3 months in the first year of diagnosis, followed by monitoring every 6 months in the following years if stable on ERT
CK
Reduction in CK level indicates response to treatment
GAA antibody titers
High and sustained antibody titers (HSAT) correlate with poor response to ERT in IOPD
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