Clinical features of mitochondrial disease
| Neuromuscular (for review see ref 97) |
|---|
| External ophthalmoplegia and ptosis6 7 |
| Sensorineural deafness105 106 |
| Myopathy51 65 |
| Migraine107 108 |
| Seizures/myoclonus109 110 |
| Encephalomyopathy28 111 |
| Dementia71 111 |
| Ataxia112 |
| Stroke-like episodes113 |
| Parkinsonism/dystonia114 |
| Spastic paraparesis115 |
| Peripheral neuropathy116 |
| Rhabdomyolysis60 |
| Optic atrophy109 |
| Pigmentary retinopathy109 |
| Cardiac |
| Hypertrophic cardiomyopathy43 |
| Accessory pathways117 118 |
| Heart block119 |
| Endocrine |
| Diabetes mellitus99 120 |
| Hypoparathyroidism121 122 123 |
| Hypogonadism124 |
| Infertility125 |
| Gastrointestinal |
| Dysphagia96 |
| Cyclical vomiting72 126 |
| Pseudo-obstruction127 128 |
| Renal |
| Aminoaciduria129 |
| Renal tubular dysfunction130 |
| Tubulointerstitial disease131 |
| Toni-Fanconi-Debre syndrome132 133 |
| Barrter syndrome134 |
| Haematological |
| Sideroblastic anaemia135 |
| Pancytopenia135 |
| Pancreas and liver |
| Exocrine pancreatic failure136 |
| Hepatocellular failure137 |
| Pyschiatric |
| Depression138 139 |
| Psychotic illness140 |
| Dermatological |
| Lipomatosis141 |