Table 2.
Clinical presentations of patients with Leigh syndrome
| Defect and mut | Mut only | Defect only | No defect, no validated mut | Total | |
|---|---|---|---|---|---|
| Number of patients | 41 | 12 | 34 | 19 | 106 |
| Leigh-like | 6 | 4 | 10 | 4 | 24 |
| Livinga | 71% (20/28) | 78% (7/9) | 62% (16/26) | 83% (10/12) | 71% (53/75) |
| Age of living patientsa [median (range)] | 9 (3–17) years | 8 (3–15) years | 9.5 (3–38) years | 8.5 (6–20) years | 8 (3–38) years |
| Age at onset [median (range)] | 10.5 months (0 months–8 years) | 9 months (0 months–5 years) | 5.5 months (0 months–6 years) | 10 months (0 months–2 years) | 9 months (0 months–8 years) |
| Neonatal onset | 2 (5%) | 2 (17%) | 7 (21%) | 1 (5%) | 12 (11%) |
| Seizure | 20% | 33% | 41% | 42% | 32% |
| Involuntary movement | 10% | 25% | 18% | 16% | 15% |
| Hypotonia | 24% | 42% | 9% | 32% | 23% |
| Nystagmus/ ophthalmoplegia | 17% | 33% | 26% | 11% | 21% |
| Dysphagia | 10% | 17% | 29% | 32% | 21% |
| Respiratory distress | 24% | 17% | 41% | 37% | 31% |
| Serum L/P (mean ± SD) (number of data available) | 26.4 ± 16.4 (36) | 22.9 ± 14.9 (10) | 21.4 ± 9.9 (27) | 18.2 ± 5.7 (16) | 23.0 ± 13.2 (89) |
| CSF L/P (mean ± SD) (number of data available) | 27.2 ± 28.0 (30) | 20.7 ± 4.5 (9) | 25.0 ± 9.6 (20) | 18.7 ± 7.1 (14) | 24.1 ± 18.9 (73) |
Mut mutations in mitochondrial and nuclear DNA, L/P lactate-to-pyruvate ratio, SD standard deviation, CSF cerebrospinal fluid
aAs of November 2016