Intractable Rare Dis Res. 2019;8(2):134-137. (DOI: 10.5582/irdr.2019.01060)

Heart rate variability in a patient with alternating hemiplegia.

Nakashima T, Yasuda K, Kobayashi M, Wada H, Ishii A, Hirose S


Alternating hemiplegia of childhood (AHC) is a rare disorder characterized by repetitive episodes of transient hemiplegia. Although autonomic nervous system dysfunction is believed to be associated with AHC, there are no reports of heart rate variability (HRV) in patients with AHC. In the current study, we analyzed HRV in a 20-year-old female with this disorder. The frequency of paralytic attacks have decreased since the patient was a teenager, compared to when she was < ten years old; however, as a 20-year-old, she still experiences paralytic attacks several times per month to more than ten times per month. Thus far, she has only suffered paralytic attacks and no epileptic seizures. Using Sanger sequencing, Gly947Arg (2839G>A) in the sodium-potassium (Na+/K+)-ATPaseα3 subunit gene (ATP1A3) was confirmed from her blood sample. An elevated heart rate lasting one to two minutes and sometimes longer, was primarily observed at night while the patient was sleeping. Large fluctuations in HRV, including low- and high- frequency components, were primarily observed while the patient was sleeping but suppressed during paralytic attacks. These results confirm the presence of an autonomic nervous system disorder in AHC. Because large variation of the autonomic nervous function was observed at night, the pathophysiological function should be investigated for 24 hours.

KEYWORDS: Transient hemiplegia, paralytic attack, autonomic nervous dysfunction, abnormal eye position

Full Text: