Table 2.
Medical history and clinical findings in patients with MTM1 mutations. *FVC (Forced vital capacity) percentage of predicted value
| Patient 1 | Patient 2 | Patient 3 | |
| Birth height/weight | 54 cm/3.9 kg | 57 cm/3.2 kg | 54 cm/3.1 kg |
| Histology | central nuclei + FTD (12 mo) | central nuclei (at 2.6 y) | i.a. (one week), myopathic (12 mo) central nuclei (7 y; 25 y) |
| Independent walking (age) | 18 months (Lost at 9 y) | Non-ambulant | 18 months |
| Height in the first years of life | >75th percentile | 75th percentile | >75th percentile |
| Ptosis | + | + | + |
| Ophthalmoplegia | +diagnosed at 7 y | +diagnosed at 11 y | +diagnosed at 5 y |
| Myopia | + | + | + |
| High-arched palate | + | +(extreme) | + |
| Surgery ankles (TA) | 9 y | 9 y (+knees) | 15 y (+pes cavus) |
| Scoliosis | 14 y | 10 y | – |
| Retentio testis | – | 5 y | 3 y |
| Feeding –G tube | 15 y | always | – |
| Respiratory function (FVC% ) | 19% - used NIV from 6 y | IV from 3 y | 35% - used NIV from 9 y |
| MRC % total/proximal/ distal | 26% /14% /45% | 24% / 19% /32% | 57% /36% /80% |
| MFM % total | 31/100 | 27/100 | 89/100 |
| Axial/proximal | 36/100 | 33/100 | 92/100 |
| distal | 81/100 | 66/100 | 100/100 |
| Joint contractures | Neck, shoulder, elbow, wrist, hips, knees, jaws |
Neck, shoulder, elbow, wrist, hips, knees, jaws |
Feet, jaws |