Table 2.
Summary of the clinical features of the seven patients (CK creatine kinase, ND no data)
| Patient | 1 | 2 | 3 | 4 | 5 | 6 | 7 |
|---|---|---|---|---|---|---|---|
| Sex | F | M | F | F | F | F | M |
| Age of onset | Birth | Birth | Birth | 4 months | 2 months | Birth | Birth |
| Current age (years) | 7 | 6 | 6 | 5 | 6 | 12 | 3 |
| Serum CK | 4,400 IU/I | 5,500 IU/I Sat | 7,330 IU/I | 2,978 IU/I | 2,600 IU/I | 4,997 IU/I | 1,370 IU/I |
| Maximal motor milestone | Sat unsupported | unsupported | Sat unsupported | Sat unsupported | Sat unsupported | Sat unsupported | Sat unsupported |
| Contractures | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
| Hypertrophy | Calf | Calf | No | Calf | No | Tongue | Calf |
| Mental Retardation | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
| Head circumference | − 2 SD | − 2 SD | − 2 SD | − 2 SD | − 2 SD | − 2 SD | − 2 SD |
| White Matter Changes | Yes (3 years) | Yes (3 years) | No (6 years) | No (5 years) | Yes (3 years) | Yes (1 year)/+/−(4 years)/No (12 years) | Yes (2.5 years) |
| Cerebellar Cysts | Yes | Yes | Yes | Yes | ND | Yes | Yes |
| Hypoplasia of vermis | Yes | Yes | Yes | No | ND | Yes | Yes |
| Microcephaly | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
| Eye involvement | No | Strabismus | No | No | No | Ophthalmoplegia | ND |
| left ventricular | Left ventricular | ||||||
| Cardiac function | Normal | Normal | ND | hypertrophy | ND | dilatation | Normal |
| Respiratory function | Normal | Normal | Normal | Normal | Normal | Mechanical ventilation | Normal |
| Scoliosis | Yes | Yes | No | Yes | No | Vertebral arthrodesis | No |