Table 3 Disease spectrums in Chinese neonates with hypotonia.
From: Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population
Diagnosis | Number of cases (%) |
|---|---|
Central hypotonia disorders | 95 (51.1) |
Chromosomal abnormalities | |
Down syndrome | 47 (25.3) |
Prader-Willis syndrome | 23 (12.4) |
Syndromic disorders | |
RETT syndrome | 7 (3.8) |
Metabolic disorders | |
Methylmalonic acidemia | 11 (5.9) |
Phenylketonuria | 1 (0.5) |
Propionic acidemia | 1 (0.5) |
Citrullinemia | 1 (0.5) |
Endocrinal disorders | |
Hypothyroidism | 3 (1.6) |
Other syndrome | |
Congenital central hypoventilation syndrome | 1 (0.5) |
Peripheral hypotonia disorders | 22 (11.8) |
Motoneuron disorders | |
Spinal muscular atrophy | 10 (5.4) |
Congenital myopathies | |
Central core/multi-minicore disease | 6 (3.2) |
Myotubular myopathy | 2 (1.1) |
Other muscle disorders | |
Charcot-Marie-Tooth disease | 2 (1.1) |
Congenital myodystrophy | 1 (0.5) |
Myotonic dystrophy | 1 (0.5) |
Undetermined | 69 (37.1) |
Total | 186 |
