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. 2022 Sep 16;9(9):1404. doi: 10.3390/children9091404

Table 3.

Assessment tests on PD disease progression [26].

Outcomes Assessments
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

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

Functional exercise capacity
  • 6 min walk test

  • Performed indoors along a 30 m long, straight and flat corridor. Count the laps to estimate the distance covered. Record patient’s dyspnea and fatigue

Quality of life
  • The Short Form 36 (SF36) Health Survey

  • Assessed the changes in QoL in both physical health and mental health domains

Hearing
  • Audiology assessment

  • Performed at baseline and then as clinically indicated

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