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Individuals affected by the typical form of the disease represent 80% of all cases and have more pronounced symptoms, with marked impairment in neurophysiological development, truncal hypotonia, increased appendicular tone, global dystonia, loss of head control, bradykinesia, swallowing difficulties, somnolence and hyperthermia, among others [62]

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7%), [2] which is reassuring at the scale studied, but Phase 2 trials are not powered to detect uncommon serious risks, and their durations are too short to characterize long-term effects on body composition (including lean mass), bone, or rare adverse events