Table 1. Parameters in mitochondrial myopathy.
1 | 2 | 3 | 4 | 5 | |
---|---|---|---|---|---|
General | |||||
Gender | F | M | M | M | M |
Date of birth | 12.10.98 | 12.12.00 | 27.1.01 | 10.11.97 | 5.1.99 |
Muscular | |||||
Hypotonia | + | - | + | + | - |
Muscle weakness | + | + | + | + | + |
Muscle cramps | - | + | - | + | + |
Exercise intolerance | + | + | + | + | + |
Neurological | |||||
Mental retardation | + | - | - | - | - |
Epilepsy | - | - | - | - | - |
Pyramidal involvement | - | - | - | - | - |
Extrapyramidal symptoms | - | - | - | - | - |
Visual loss | - | - | - | - | - |
Hearing loss | - | - | - | - | - |
Concentration problems | + | + | + | + | + |
Multisystem | |||||
Failure to thrive | - | + | - | - | - |
Cardiac involvement | - | - | - | - | - |
Renal involvement | - | - | - | - | - |
Endocrine abnormalities | - | - | - | - | - |
Chronic diarrhea | - | + | - | - | - |
Food aversion | + | + | - | - | + |
Biochemistry | |||||
Complex deficiency | III + V | I + III | I | III | I |
Alanin (blood) μmol/L | |||||
(N<460) | 503 | 301–460 | 275–490 | 430–510 | 392–446 |
Lactate (blood) mmol/L | |||||
(N<2.1) | 0.9–2.7 | 1.1–3.8 | 1.1–1.8 | 1.4–1.9 | 1.3–3.2 |
MDC score | 8 | 6 | 5 | 6 | 6 |
Exercise tolorence | |||||
MABC | 15 pc | 50 pc | 5 pc | 5–10 pc | 15 pc |
Treadmill test 1* (Bruce17) | 8.55 min | 7 min | 11 min | 9.5 min | 9 min |
Treadmill test 2** (Bruce17) | 8.44 min | 7.3 min | 10 min | 8 min | 9.1 min |
VO2-max1+ | 45.6 | 51.05 | 48.18 | 49.92 | 51.2 |
VO2-max2++ | 44.9 | 51.06 | 45.68 | 50.88 | 50.56 |
Exercise endurance according to Bruce17 at the time of first and last measurement;
VO2max at the first and last measurements.