Patient 1 | |
Age | Disease Course |
≤ 0 | inconspicuous pregnancy, Cesarean section in the 38th week of gestation because of a silent cardiotocogram, birth weight of 3.6 kg, respiratory distress syndrome that required brief ventilation with face mask postpartum |
3 days | myocloni and a periodic breathing with decreased blood oxygen saturation |
2.5 month | hypotonia, dystonia, reduction of movements, persistent increase of ASAT, ALAT and CK, diagnosis of hypertrophic cardiomyopathy |
5 month | generalised muscular hypotonia, movement of extremities possible, hypertrophic cardiomyopathy start of enzyme replacement therapy |
11 month | first free sitting with arm support |
16 month | first rolling, tendency to pull to stand, active crawling, IVSd 7.7 mm [2.6 - 5.6]§ |
22 month | beginning of four point kneeling and crawling, begins supported standing, IVSd 6.9 mm [2.7 – 5.9] |
2 4/12 years | sitting without arm support with proper head control, supported standing with reduced force of Mm. quadriceps femoris, IVSd 6.6 mm [2.7 – 5.9] |
4 years | Unclear speech, stands on hand and feet, and sits unsupported, crawling, good arm control but poor head control, and hypotonic upper body, IVSd 6.7 mm [3.3 – 6.3] |
5 years | start of invasive ventilation in supine position because of atelectasis, normalized cardiac function with IVSd 6 mm [3.3 – 6.3] |
Patient 2 | |
Age | Disease Course |
≤ 0 | normal prenatal development despite of developing a hypertrophic cardiomyopathy, spontaneous delivery in the 37th week of gestation, birth weight of 3.1 kg |
4 days | start of enzyme replacement therapy, IVSd 6.7 mm [2.3 – 4.9] |
2 month | head control for 2-3 sec. when pulled up from supine position, IVSd 6.6 mm [2,4 – 5,2] |
5 month | normal development, normal force, lifts head actively in prone position, rolling from prone to supine position and back, IVSd 5 mm [2.5 – 5.3] |
8 month | normal development, supported standing, crawling, free sitting, normal force, IVSd 6 mm [2.6 – 5.6] |
11 month | independent walking and standing |
15 month | normal development, normal force, walking but a bit waddling, discrete Facies hypotonica, proper standing up without Gower´s sign, IVSd 5 mm [2.6 – 5.8] |
Patient 3 | |
≤ 0 | inconspicuous pregnancy, spontaneous delivery in the 39th week of gestation, birth weight of 3.2 kg |
2 month | weak in breathing and sucking |
3 month | generalised muscular hypotonia with respiratory insufficiency, cyanosis, hypertrophic cardiomyopathy, IVSd 10 mm [1.4 – 3.8] start of enzyme replacement therapy |
data on the further course are not yet available |