Table 1. Clinical features of patients diagnosed with NM included in this study.
| Patient | 1 | 2 | 3 | 4 | 5 |
|---|---|---|---|---|---|
| Congenital Form | Intermediate | Severe | Severe | Typical | Typical |
| Debut at birth | + | + | + | - | - |
| Sex | Male | Male | Male | Male | Female |
| Muscle weakness | + | + | + | + | + |
| Face | + | + | + | + | + |
| Neck flexors | - | + | + | - | - |
| Proximal limb muscles | + | + | + | + | + |
| Distal limb muscles | - | + | + | - | - |
| Hypotonia | + | + | + | + | + |
| Areflexia | + | + | + | + | + |
| Ophthalmoplegia | - | - | - | - | - |
| Bimodal communication | + | + | + | - | - |
| Normal Intelligence | + | + | + | + | + |
| Cardiac involvement | - | - | - | - | - |
| Bulbar weakness | + | + | + | - | - |
| Respiratory insufficiency | - | + | + | - | - |
| Walk independently | - | - | - | + | + |
| Wheelchair dependence | + | + | + | - | - |
| Cephalic support | + | - | - | + | + |
| Sedestation | + | - | - | + | + |
| Drooling | + | - | - | - | - |
| Scoliosis | - | + | + | - | - |
| Ogival palate | + | + | + | + | + |
| Ankle contractures | - | - | - | - | + |
| Articular hypermobility | - | - | - | + | - |
| PEG | + | + | + | - | - |
| Mechanic ventilation | - | + | + | - | - |
PEG: Percutaneous Endoscopic Gastrostomy Feeding; Bimodal communication (eyes, tongue and fingers). The presence of the clinical feature is symbolized by (+); no evidence of the symptom is represented by (-).