As Brody’s disease is often diagnosed in adulthood, even though discomfort may have been present since childhood, a Dutch team has reviewed the observations of nine children, aged between 4 and 16, with an anomaly in the ATP2A1 gene, which is implicated in this pathology.
- Although their muscle mass and strength were normal, and some of the children were even athletic in appearance, they presented with mowing that worsened when running due to knee flexion limited by delayed relaxation.
- Thanks to this early diagnosis, the children were able to make adjustments to their daily activities to improve their quality of life.
