Table 1.
Mitochondrial disease diagnoses represented in the survey
| Mitochondrial disease | Frequency | Percent |
|---|---|---|
| Mitochondrial Myopathy | 32 | 20.1 |
| Complex I deficiency | 17 | 10.7 |
| CPEO | 12 | 7.5 |
| MELAS | 9 | 5.7 |
| Kearns-Sayre syndrome | 8 | 5.0 |
| Leigh syndrome | 7 | 4.4 |
| MERRF | 7 | 4.4 |
| Complex III deficiency | 6 | 3.8 |
| Multiple complex deficiencies | 6 | 3.8 |
| Encephalomyopathy | 5 | 3.2 |
| Leber hereditary optic neuropathy (LHON) | 5 | 3.2 |
| Mitochondrial DNA depletion | 5 | 3.2 |
| CPEO "plus" | 5 | 3.2 |
| Coenzyme Q10 deficiency | 3 | 1.9 |
| Complex IV deficiency | 3 | 1.9 |
| POLG spectrum (Alpers Syndrome, SANDO) | 3 | 1.9 |
| Carnitine transporter defects | 1 | 0.6 |
| Complex II deficiency | 1 | 0.6 |
| NARP | 1 | 0.6 |
| Pyruvate dehydrogenase deficiency | 1 | 0.6 |
| Other (including: NDUFAF5, CARS2, OPA1, MTCO3, CPT2 mutations; Leigh-like disease*; and ataxia) |
23 | 14.5 |
*
Features of Leigh disease that do not meet all criteria for a clinical diagnosis or remain without a molecular diagnosis.