title: Autonomic dysfunction in cases of spinal muscular atrophy type 1 with long survival.
abstract: In Japan, quite a few patients with spinal muscular atrophy type 1 (SMA type 1) survive with mechanical ventilation. Since a patient with SMA type 1 and continuous artificial ventilation exhibited excessive perspiration and tachycardia, we examined the autonomic functions in three cases of SMA type 1, undergoing mechanical ventilation. Two cases exhibited the common sympathetic-vagal imbalance on R-R interval analysis involving 24-h Holter ECG recordings in addition to an abnormality in finger cold-induced vasodilatation. Furthermore, one case showed blood pressure and heart rate fluctuation with the paroxysmal elevation, and a high plasma concentration of norepinephrine during tachycardia. These findings suggest that autonomic dysfunction should be examined in SMA type 1 patients with long survival, although the pathogenesis remains to be clarified.
authors.affiliation: Department of Pediatrics, Tokyo Metropolitan Fuchu Medical Center for SMID, 2-9-2 Musashi-dai, Fuchu-shi, Tokyo 183-0042, Japan. y-hachi@sc4.so-net.ne.jp
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Hachiya
authors.forename: Hidee
authors.initials: H
authors.lastname: Arai
authors.forename: Masaharu
authors.initials: M
authors.lastname: Hayashi
authors.forename: Satoko
authors.initials: S
authors.lastname: Kumada
authors.forename: Wakana
authors.initials: W
authors.lastname: Furushima
authors.forename: Eiko
authors.initials: E
authors.lastname: Ohtsuka
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Ito
authors.forename: Akira
authors.initials: A
authors.lastname: Uchiyama
authors.forename: Kiyoko
authors.initials: K
authors.lastname: Kurata
mesh_terms: D001341:Autonomic Nervous System / Q000503:physiopathology*; D001794:Blood Pressure; D002648:Child; D015716:Electrocardiography, Ambulatory; D005260:Female; D006321:Heart / Q000000981:diagnostic imaging / Q000294:innervation; D006339:Heart Rate; D006801:Humans; D008297:Male; D009638:Norepinephrine / Q000097:blood; D014897:Spinal Muscular Atrophies of Childhood / Q000097:blood / Q000503:physiopathology*; D013610:Tachycardia / Q000097:blood; D015899:Tomography, Emission-Computed, Single-Photon; D014664:Vasodilation
chemical_list: D009638:Norepinephrine