Table 2 Additional clinical features in patients with histologically suspected or genetically confirmed mitochondrial disease
From: Mitochondrial pathology in progressive cerebellar ataxia
Patient groups | |||
|---|---|---|---|
Histologically suspected mitochondrial disease without genetic confirmation | Genetically confirmed mitochondrial disease | Unlikely mitochondrial disease remaining patients | |
Total | 21/126 (17 %) | 11/126 (9 %) | 94/126 (75 %) |
Family History | 12/21 (57 %) | 2/11 (18 %) | 36/94 (38 %) |
Autosomal recessive | 5/21 (24 %) | 0/11 (0 %) | 16/94 (17 %) |
Autosomal dominant | 3/21 (14 %) | 1/11 (9 %) | 10/94 (11 %) |
Maternal | 4/21 (19 %) | 1/11 (9 %) | 10/94 (11 %) |
No Family History | 9/21 (43 %) | 9/11 (82 %) | 58/94 (62 %) |
Pure Ataxia | 3/21 (14 %) | 0/11 (0 %) | 21/94 (22 %) |
Ataxia Plus (Associated features) | 18/21 (86 %) | 11/11 (100 %) | 73/94 (78 %) |
Neurological | |||
Deafness | 3/21 (14 %) | 5/11 (45 %) | 19/94 (20 %) |
Dysphagia | 0/21 (0 %) | 2/11 (18 %) | 0/94 (0 %) |
Developmental problems | 1/21 (5 %) | 2/11 (18 %) | 11/94 (12 %) |
Cognitive deficits | 2/21 (10 %) | 2/11 (18 %) | 6/94 (6 %) |
Dystonia | 2/21 (10 %) | 0/11 (0 %) | 2/94 (2 %) |
Myoclonus | 2/21 (10 %) | 3/11 (27 %) | 14/94 (15 %) |
Epilepsy | 2/21 (10 %) | 2/11 (18 %) | 12/94 (13 %) |
Peripheral neuropathy | 5/21 (24 %) | 1/11 (9 %) | 21/94 (22 %) |
Spastic paraparesis | 7/21 (33 %) | 2/11 (18 %) | 7/94 (7 %) |
Myopathy | 2/21 (10 %) | 1/11 (9 %) | 8/94 (9 %) |
Endocrine | |||
Impaired glycaemia/DM | 1/21 (5 %) | 3/11 (27 %) | 8/94 (9 %) |
Ocular | |||
Ptosis | 0/21 (0 %) | 0/11 (0 %) | 3/94 (3 %) |
Ophthalmoplegia | 0/21 (0 %) | 1/11 (9 %) | 6/94 (6 %) |
Optic atrophy | 0/21 (0 %) | 1/11 (9 %) | 2/94 (2 %) |
Retinitis pigmentosa | 0/21 (0 %) | 2/11 (18 %) | 2/94 (2 %) |
Other | |||
Short stature | 1/21 (5 %) | 1/11 (9 %) | 1/94 (1 %) |
Nephropathy | 0/21 (0 %) | 1/11 (9 %) | 1/94 (1 %) |