case_images: PMC11300344_01
case_images: Timeline of case's salient events.
case_images: fphys-15-1404657-g001.jpg
case_images: PMC11300344_01_fphys-15-1404657-g001.jpg
case_images: F1
case_images: He was diagnosed with CCM when he was 3 years old, and a subsequent genetic examination (Figure 1) highlighted a heterozygous pathogenic variant in a gene compatible with the patient's clinical manifestations, which leans towards the diagnostic classification of CCM pathogenic variant of the dominant gene RYR1.
case_images: Trend of CK values over time. The white columns represent the values obtained in the last three routine checks carried out before contacting our centre. The December 2022 and January 2023 values have been entered to show data relating to the patient's normal CK values. The February 2023 value, as specified, was obtained following the at home unsupervised physical activity. The black columns refer to the values obtained 36 h after the training sessions of the preliminary test. The grey column refers to the value obtained 36 h after the last session of the training program.
case_images: fphys-15-1404657-g002.jpg
case_images: PMC11300344_01_fphys-15-1404657-g002.jpg
case_images: F2
case_images: The weekly frequency of the sessions (3 per week) was chosen considering that 36 h after the preliminary training sessions, time frame within which, considering the moderate intensity of the exercises, serum CK should have reached its peak, the CK values were comparable to those found in some previous routine checks (Figure 2), suggesting a possible cumulative effect as unlikely. Coherently with the preliminary tolerance test procedure, post-training program CK measurement was performed 36 hours after the last exercise session (Figure 2).