Therapists and families alike search for answers as to how to proceed when a child is in an episode and with varying functional presentation. A more in-depth analysis of what is occurring at a physiological level can assist families and clinicians in clinical decision-making throughout plans of care.
Mutation of the ATP1A3 gene results in dysregulation of the Na+-K+-ATPase family. A P-type ATP-powered ion transporter on the cell membrane plays a vital role in cellular excitability. As it moves sodium and potassium ions across the cell membrane, it allows cells to maintain differing concentrations of charged ions on either side, similar to a battery. This difference enables electrical currents to flow into and out of cells, driving action potentials in neurons and other essential cell functions. It is important to remember this dysregulation is the origin of some of the symptoms you may see in therapy: paralysis, dystonia, rapid eye movement, and limb stiffening. These symptoms are not due to brain injury as you are likely accustomed to; therefore, they should be treated differently. For instance, weight bearing on the affected limb will not be beneficial during an episode as the paralysis is due to a dysregulation of this ion channel and not due to disruption of muscle innervation.
As overstimulation plays a role in the dysregulation of the ion pump, environment, and stimulation should also be considered when continuing therapies during an AHC episode.
Maximize therapeutic interventions during times out of an episode.
