Table 1.
Patients’ characteristics and total cohort description
| CD patients (n = 42) | PD patients (n = 4) | |
|---|---|---|
| Onset | ||
| Onset <1 month | 17/31* | 1/4 |
| Onset 1‐6 months | 9/31 | 2/4 |
| Onset >6 months | 5/31 | 1/4 |
| Investigations | ||
| Brain MRI Isolated WM alteration | 11/15 | 1/3 |
| Brain MRI WM + structural abnormalities | 3/15 | 1/3 |
| Normal Brain MRI | 1/15 *at 6 months | 1/3 |
| Abnormal nerve conduction | 6/13 | 0/2 |
| CK levels, IU/L, median (range) | 2665 (394‐36000) | 2318(563‐3375) |
| Prenatal features | ||
| Decreased fetal movement | 5/22 | 1/4 |
| Talipes/contractures | 5/26 | 0/4 |
| Polyhydramnios | 2/22 | 0/4 |
| Breech presentation | 1/24 | 0/4 |
| Speech delay | 2/24 | 0/4 |
| Motor delay | 42/42 | 4/4 |
| Motor attainments | ||
| Independent sitting, median in months (range) | 12 (6‐40) | 10.1 (8.1‐13.1) |
| Best independent walking | 1 | 2 |
| Best walking with support ± KAFO | 5 | 2 |
| Best standing with support | 3 | ‐ |
| Disease‐related complications | ||
| Scoliosis (median age of onset, years; range) | 36 (6.3; 1.9‐14.8) | 1 |
| Scoliosis surgery (median age, years; range) | 9 (11.6; 7.7‐13.5) | 0 |
| Hospital admission for chest infection <2 years | 15/27 | 0/4 |
| Nocturnal NIV (median age, years; range) | 22 (9.5; 0.5‐16.5) | 0 |
| Tracheostomy (age) | 1 (1.8y) | 0 |
| Feeding | ||
| PEG positioning (median age, years; range) | 19 (5, 1.7‐15.5) | 1 (5.3) |
| PEG due to failure to thrive | 10/19 | 1/1 |
| PEG due to unsafe swallow | 1/19 | ‐ |
| PEG due to unsafe swallow/failure to thrive | 5/19 | ‐ |
| PEG+ oral feeds at last follow‐up | 11/19 | 1/1 |
| Cardiac involvement | ||
| Mild LVD | 5 | 0 |
| Rhythm abnormalities | 3 | 0 |
| Severe cardiac involvement# | 0 | 0 |
| Epilepsy (median age of onset, years; range) | 4 (7.7, 5.3‐11) | 0 |
| Learning difficulties | 2 | 0 |
FU, follow‐up; KAFO, Knee ankle foot orthosis; LFD, left ventricular dysfunction; n, number; NIV, non‐invasive ventilation; PEG, Percutaneous endoscopic gastrostomy; WM, white matter; y, years. *values indicate number of patients with this finding in numerator and total of patients for which this information was available in the denominator; # defined as requiring medication.