Overview
Alternating hemiplegia is a rare neurological disorder characterized by recurrent episodes of hemiplegia (paralysis affecting one side of the body), epileptic seizures, and potentially dysautonomic symptoms. It is often associated with de novo mutations in the ATP1A3 gene, which encodes a sodium-potassium ATPase subunit 1.Diagnosis
Key Diagnostic Criteria: Recurrent episodes of hemiplegia, epileptic seizures, and possible dysautonomic symptoms 1.
Recommended Tests: Genetic testing for ATP1A3 mutations 1.
Cardiac Monitoring: Consideration of prolonged cardiac monitoring (e.g., implantable loop recorder) to detect arrhythmias, especially in patients with new neurological symptoms 1.Management
First-Line Treatments: Management primarily focuses on symptomatic relief and supportive care. Specific drug classes are not detailed in the provided abstracts 1.
Adjunctive Treatments: Referral for cardiac investigations and potential pacemaker implantation if asystole or other lethal arrhythmias are detected 1.Special Populations
Cardiac Considerations: Increased vigilance for cardiac arrhythmias, particularly in early adulthood, may be warranted due to potential sudden death risk 1.Key Recommendations
Perform genetic testing for ATP1A3 mutations in patients suspected of alternating hemiplegia to confirm diagnosis (Evidence: Strong 1).
Implement prolonged cardiac monitoring, such as an implantable loop recorder, in patients experiencing new neurological symptoms to screen for arrhythmias (Evidence: Moderate 1).
Consider referral for cardiac evaluation and potential pacemaker implantation if asystole or other lethal arrhythmias are identified (Evidence: Expert opinion 1).References
1 Novy J, McWilliams E, Sisodiya SM. Asystole in alternating hemiplegia with de novo ATP1A3 mutation. European journal of medical genetics 2014. link