Does identical ATP1A3 mutation cause alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes?
The discordance of these phenotypes suggests that there are other undiscovered environmental, genetic, or epigenetic factors influencing the development of alternating hemiplegia of childhood or rapid-onset dystonia parkinsonism.
Hiatal ballooning can be diagnosed with 2D translabial ultrasound. We propose that an AP hiatal diameter on Valsalva of up to 5.99 cm be regarded as normal, with 6-<6.5 cm defined as mild, 6.5-<7 cm as 'moderate', 7-<7.5 cm as 'marked' and 7.5 or more as 'severe' ballooning.