Table 4 Clinical case series of patients with hypotonia.
From: Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population
Clinical case | Total population | Central:peripheral | Central | Peripheral | Setting | ||||
|---|---|---|---|---|---|---|---|---|---|
Chromosomal abnormalities | Syndromic disorders | Metabolic disorders | Endocrinal disorders | Spinal muscular atrophy | Congenital myopathies | ||||
Richer et al.2 | 50 | 33:17(1.9) | 4(8.0%) | 9(18.0%) | 0 | 0 | 1(2.0%) | 7(14.0%) | Neonatal intensive care |
Paro-Panjan and Neubauer33 | 138 | 121:13(9.3) | 41(29.7%) | 19(13.8%) | 8(5.8%) | 0 | 3(1.4%) | 4(2.9%) | University Children’s Hospital |
Vasta et al.3 | 83 | 44:39(1.1) | 0 | 6(7.2%) | 8(9.6%) | 0 | 0 | 0 | Neuromuscular unit |
Birdi et al.1 | 60 | 58:12(4.8) | 1(1.7%) | 13(21.7%) | 0 | 0 | 4(6.7%) | 2(3.3%) | University Children’s Hospital |
Laugel et al.4 | 144 | 98:22(4.5) | 24(16.7%) | 7(4.9%) | 9(6.3%) | 2(1.4%) | 7(4.9%) | 2(1.4%) | Tertiary care |
Our research | 214 a | 122:23(5.3) | 47(22.0%) | 30(14.0%) | 14(6.5%) | 3(1.4%) | 10(4.7%) | 8(3.7%) | Neonatal intensive care |
