Table 3.
The clinical characteristics in patients with DNM1L variants in different domains.
| Clinical data | GTPase domain | Middle domain | P-value | |
|---|---|---|---|---|
| %(n/n)or n | (n = 12) | (n = 23) | ||
| Age of onset | 0.5 (0.1–5) | 0.5 (0.1–9) | / | |
| Sex | Male | 44.4% (4/9) | 52.4% (11/21) | 1.000 |
| Female | 55.6% (5/9) | 47.6% (10/21) | ||
| The last | Survive | 83.3% (10/12) | 56.5% (13/23) | 0.149 |
| follow-up | death | 16.7% (2/12) | 43.5% (10/23) | |
| Psychomotor retardation | 50.0% (6/12) | 91.3% (21/23) | 0.011 | |
| Limb paralysis | 66.7% (8/12) | 64.3% (9/14) | 1.000 | |
| Dependent ambulation | 2 | 2 | ||
| Stand | – | 1 | ||
| Sitting | – | 1 | ||
| No postural control | 6 | 5 | ||
| Dystonia | 72.7% (8/11) | 88.2% (15/17) | 0.353 | |
| Epilepsy | 8.3% (1/12) | 89.5% (17/19) | 0.000 | |
| Status epilepticus | 1 | 12 | ||
| Ataxia | 5 | 1 | / | |
| Nystagmus | 1 | 1 | / | |
| Optic atrophy | 4 | 1 | / | |
| Dysarthria | 3 | 1 | / | |
| Microcephalus | 1 | 3 | / | |
| Pain insensitivity | – | 2 | / | |
| Sensory and motor axonal neuropathy | 1 | 1 | / | |
| Abnormality in MR image | 62.5% (5/8) | 90.9% (20/22) | 0.102 | |
| Hyperintense in cortex | 1 | 9 | / | |
| Hyperintense in white matter | 1 | 2 | / | |
| Hyperintense in basal ganlia/ hypothalamus | 4 | 6 | / | |
| Cerebral atrophy | 1 | 11 | / | |
| thinning/absence of corpus callosum | 0 | 3 | / | |
| lactate peak | 1 | 3 | / | |
| Abnormal EEG | 20.0% (1/5) | 92.9% (13/14) | 0.006 | |
| Epileptiform discharge | 1 | 12 | ||
| Weak background | – | 7 | ||
| Hyperlactacidemia | 57.1% (4/7) | 65.0% (13/20) | 0.661 | |
| decreased respiratory chain enzyme activity | 0.0% (0/3) | 36.4% (4/11) | 0.505 | |
| Ragged red fibers | 1 | 3 | / | |
| Abnormal morphology of mitochondria | 5 | 6 | / | |
Data are shown as prevalence %(n/n) or n(number). “–” indicates that it was not mentioned in the literature. Statistical analysis included the chi-square test or Fisher's exact probability, as appropriate. “/” indicates that no statistical analysis was performed.