Number | n available | Percent | |
---|---|---|---|
Prenatal findings | |||
Cardiomegaly | 1 | 60 | 2 |
Rhythm abnormalities | 2 | 60 | 3 |
Decreased child movements | 1 | 60 | 2 |
Oligohydramnios | 4 | 60 | 7 |
Intrauterine growth failure | 6 | 60 | 10 |
Neonatal course | |||
Lactic acidosis | 21 | 63 | 33 |
Cardiomyopathy | 15 | 63 | 24 |
Rhythm abnormalities | 4 | 54 | 7 |
Respiratory failure necessitating artificial ventilation | 6 | 54 | 11 |
Severe liver dysfunction/failure | 2 | 54 | 4 |
Severe renal dysfuntion/failure | 2 | 54 | 4 |
Most frequent clinical findings | |||
Cardiomyopathy at presentation/during course | 44/56 | 66/66 | 67/85 |
Muscular weakness at presentation/during course | 21/37 | 48/49 | 44/75 |
Exercise intolerance at presentation/during course | 21/34 | 49/47 | 43/72 |
Neurological findings | |||
Severe intellectual disability (clinical impression) | 1 | 51 | 2 |
Mild intellectual disability (clinical impression) | 14 | 48 | 29 |
Severe developmental delay (clinical impression) | 4 | 52 | 8 |
Mild developmental delay (clinical impression) | 23 | 51 | 45 |
Optic atrophy, retinits pigmentosa | 0 | 70 | 0 |
Neuroradiological findings | |||
MRI: basal ganglia alterations | 4 | 24 | 17 |
MRI: leukoencephalopathy | 5 | 21 | 24 |
MRI: global brain atrophy | 2 | 20 | 10 |
MRI: isolated cerebellar atrophy | 1 | 20 | 5 |
MRS: lactate peak (any location) | 2 | 16 | 13 |
Activities of daily living | |||
Age adequate behaviour | 27 | 39 | 69 |
Attending/finished regular school | 26 | 41 | 63 |
Able to sit independently | 34 | 42 | 81 |
Able to walk independently | 33 | 41 | 80 |
Able to eat and drink independently | 33 | 41 | 80 |
Able to perform personal hygiene independently | 30 | 41 | 73 |
Able to communicate with words/sentences | 34/31 | 43/42 | 79/74 |