Table 2.
Abnormalities (n=63) in organs frequently affected by an MID in the present investigation and the literature
| Organ | Literature reported abnormalities | NOPWTA | PubMed hits | PubMed points | References |
|---|---|---|---|---|---|
| Muscle | Progressive external ophthalmoplegia | 6 | ~500 | 3 | 33 |
| Ptosis | 9 | ~150 | 3 | 34 | |
| Easy fatigability, exercise intolerance | 13 | ~110 | 3 | 35 | |
| Limb weakness | 20 | ~60 | 2 | 36 | |
| Hyper-CK-emia | 20 | ~55 | 2 | 37 | |
| Wasting | 19 | ~50 | 1 | 31 | |
| Respiratory insufficiency | 1 | ~45 | 1 | 36 | |
| Myoglobinuria | 1 | ~30 | 1 | 35 | |
| Cramping | 9 | 18 | 1 | 38 | |
| Myalgia | 14 | 16 | 1 | 35 | |
| Abnormal lactate stress test | 15 | 15 | 1 | 39 | |
| Double vision, diplopia | 8 | 11 | 1 | 40 | |
| Stiffness | 2 | 5 | 1 | 41 | |
| Fasciculations | 5 | 3 | 1 | 38 | |
| Muscle rupture | 2 | 1 | 1 | 42 | |
| CNS | Epilepsy | 4 | ~600 | 3 | 43, 44 |
| Cortical, subcortical, cerebellar, BS atrophy | 7 | ~250 | 3 | 45 | |
| Ataxia | 4 | ~200 | 3 | 46 | |
| Parkinson | 0 | ~150 | 3 | 47 | |
| Dementia | 2 | ~100 | 3 | 48 | |
| Stroke-like episodes | 0 | ~50 | 2 | 45 | |
| Migraine | 2 | ~50 | 2 | 31 | |
| Dystonia | 0 | ~40 | 1 | 49 | |
| Tremor | 6 | ~40 | 1 | 47 | |
| Leucencephalopathy, white matter lesions | 12 | ~35 | 1 | 50 | |
| Spasticity | 5 | ~25 | 1 | 46 | |
| Dysarthria | 2 | ~20 | 1 | 51 | |
| Psychosis | 0 | ~15 | 1 | 52 | |
| Confusional state | 0 | ~15 | 1 | 53 | |
| Mild cognitive impairment | 4 | ~10 | 1 | 54 | |
| Basal ganglia calcification | 1 | 10 | 1 | 45 | |
| Dilative arteriopathy | 0 | 1 | 1 | 55 | |
| Delayed visually evoked potentials | 7 | 1 | 1 | 56 | |
| Myelopathy | 0 | 1 | 1 | 57, 58 | |
| Endocrine | Diabetes | 9 | ~700 | 3 | 37 |
| Short stature | 12 | ~80 | 2 | 20 | |
| Thyroid dysfunction | 20 | ~20 | 1 | 59 | |
| Hypoparathyroidism | 2 | ~15 | 1 | 60 | |
| Adrenal insufficiency (Addison’s disease) | 0 | ~15 | 1 | 61 | |
| Hypogonadism | 5 | ~15 | 1 | 46 | |
| Osteoporosis | 7 | ~10 | 1 | 62 | |
| Pituitary adenoma | 0 | 4 | 1 | 63 | |
| Ovarian cysts | 1 | 2 | 1 | 64 | |
| Gynecomastia | 1 | 2 | 1 | 65 | |
| Heart | Hypertrophic, dilated, restrictive CMP | 7 | ~250 | 3 | 66 |
| Heart failure, systolic dysfunction | 8 | ~70 | 2 | 67 | |
| Arrhythmias | 14 | ~60 | 2 | 68 | |
| Arterial hypertension | 0 | ~50 | 1 | 69 | |
| Noncompaction | 4 | ~15 | 1 | 70 | |
| Pulmonary hypertension | 0 | ~10 | 1 | 71 | |
| Aortic root ectasia | 0 | 10 | 1 | 25 | |
| Coronary heart disease | 0 | 3 | 1 | 72, 73 | |
| Congenital heart disease | 0 | 2 | 1 | 32 | |
| GI | Hepatopathy | 9 | ~100 | 3 | 74 |
| Vomiting | 1 | ~20 | 1 | 75 | |
| Diarrhea | 5 | ~20 | 1 | 75 | |
| Pancreatitis | 2 | ~20 | 1 | 76 | |
| Steatosis hepatis | 3 | ~15 | 1 | 77 | |
| Nonspecific colitis | 1 | ~10 | 1 | 78 | |
| Diverticulosis | 3 | 1 | 1 | 79 | |
| Sialadenitis | 0 | 1 | 1 | 13 | |
| PN | Neuropathy | 18 | .100 | 3 | 80 |
| Neuronopathy | 1 | 2 | 1 | 54, 81 |
Abbreviations: BS, brain stem; CK, creatine kinase; CMP, cardiomyopathy; CNS, central nervous system; GI, gastrointestinal; MID, mitochondrial disorder; NOPWTA, number of patients with this abnormality; PN, peripheral nerve.