Table 2.
Patient characteristics related to the resident region.
| Total | North | Central | South East | West | |
|---|---|---|---|---|---|
| Early‐onset | 32/91 (35%) (23 M, 9 F) | 6/13 (46%) | 2/9 (22%) | 7/25 (28%) | 17/44 (39%) |
| Juvenile/adult‐onset | 50/91 (55%) (21 M, 29 F) | 6/13 (46%) | 6/9 (67%) | 14/25 (56%) | 24/44 (55%) |
| Late‐onset | 9/91 (10%) (6 M, 3 F) | 1/13 (8%) | 1/9 (11%) | 4/25 (16%) | 3/44 (7%) |
| Mode of inheritance |
H: 48/91 (53%) CH: 39/91 (43%) AD: 4/91 (4%) |
H: 7/13 (54%) CH: 6/13 (46%) AD: 0 |
H: 7/9 (78%) CH: 0 AD: 2/9 (22%) |
H: 13/25 (52%) CH: 10/25 (40%) AD: 2/25 (8%) |
H: 21/44 (48%) CH: 23/44 (52%) AD: 0 |
| Time from onset to death | 3 years (1 month–49 years) | 3 years (3 months–20 years) | 26 years (3–48 years) | 4 months (1 month–27 years) | 7 years (1 month–49 years) |
| Age at death | 20 years (8 months–90 years) | 18 years (1–61 years) | 40 years (21–57 years) | 7 years (8 months–78 years) | 23 years (8 months–90 years) |
| Seizures | 65/91 (71%) | 11/13 (85%) | 6/9 (67%) | 11/25 (44%) | 37/44 (84%) |
| Tonic–clonic | 61/90 (68%) | 11/13 (85%) | 6/9 (67%) | 7/24 (29%) | 37/44 (77%) |
| Myoclonic | 44/90 (49%) | 7/12 (58%) | 4/9 (44%) | 6/25 (24%) | 27/44 (61%) |
| Status epilepticus | 53/91 (58%) | 9/13 (69%) | 4/9 (44%) | 7/25 (28%) | 33/44 (75%) |
| Focal | 62/91 (68%) | 10/13 (77%) | 6/9 (67%) | 11/25 (44%) | 35/44 (80%) |
| EPC | 29/89 (33%) | 6/12 (50%) | 2/9 (22%) | 4/25 (16%) | 17/43 (40%) |
| Ataxia | 70/91 (77%) | 8/13 (62%) | 9/9 (100%) | 15/25 (60%) | 38/44 (86%) |
| Peripheral neuropathy | 56/91 (62%) | 8/13 (62%) | 8/9 (89%) | 12/25 (48%) | 28/44 (64%) |
| Stroke‐like episodes | 37/91 (41%) | 4/13 (31%) | 5/9 (56%) | 4/25 (16%) | 24/44 (55%) |
| Migraine | 42/91 (46%) | 5/13 (39%) | 4/9 (44%) | 8/25 (32%) | 25/44 (57%) |
| Hypotonia | 24/91 (26%) | 6/13 (46%) | 1/9 (11%) | 7/25 (28%) | 10/44 (23%) |
| Weakness | 66/91 (73%) | 12/13 (92%) | 7/9 (78%) | 15/25 (60%) | 32/44 (73%) |
| Sensorineuronal hearing loss | 10/91 (11%) | 1/13 (8%) | 1/9 (11%) | 3/25 (12%) | 5/44 (11%) |
| Global developmental delay | 14/76 (18%) | 1/11 (9%) | 1/3 (33%) | 4/24 (17%) | 8/38 (21%) |
| Ptosis | 34/90 (38%) | 4/13 (31%) | 4/9 (44%) | 9/25 (36%) | 17/43 (40%) |
| PEO | 43/91 (47%) | 6/13 (46%) | 8/9 (89%) | 12/25 (48%) | 17/44 (39%) |
| Nystagmus | 39/91 (43%) | 4/13 (31%) | 6/9 (67%) | 4/25 (16%) | 25/44 (57%) |
| Visual impairment | 30/91 (33%) | 2/13 (15%) | 4/9 (44%) | 4/25 (16%) | 20/44 (45%) |
| Anaemia | 53/91 (58%) | 9/13 (69%) | 4/9 (44%) | 7/25 (28%) | 33/44 (75%) |
| Feeding difficulties | 39/91 (43%) | 9/13 (69%) | 3/9 (33%) | 6/25 (24%) | 21/44 (48%) |
| Hepatic disorder | 46/91 (51%) | 8/13 (62%) | 2/9 (22%) | 10/25 (40%) | 26/44 (59%) |
Numbers represent proportion (per cent) or median (minimum to maximum). H, homozygous; CH, compound heterozygous; AD, autosomal dominant; PEO, progressive external ophthalmoplegia; EPC, epilepsia partialis continua; M, male; F, female.