Table 1. Clinical Features of Patients with the NEFL Mutation.
| Variable | 20-1 | 20-2 | 20-3 | 20-4 |
|---|---|---|---|---|
| Age, y/sex | Alive, 72/F | Alive, 49/M | Alive, 47/M | Died at 35/M |
| Onset | Birth, floppy | Birth; floppy, facial weakness | Birth, floppy | Birth, facial weakness |
| Delayed motor milestones | Mild delay, slow runner, delayed speech | ++, Never walked, high-pitched and soft speech | Mild delay, walked before 2 y, slow speech | Mild delay by 6 mo, never could run, no speech issues |
| Facial involvement | +, Mild ptosis | + | +, Lazy eyes as child, needed patching | + |
| High-arched palate | + | + | − | + |
| Footdrop | +, Early childhood | +, Early childhood | +, Early childhood | +, Early childhood |
| Wristdrop | − | − | +, Severe | − |
| Muscle weakness | No obvious asymmetry | Distal leg and shoulder muscles more affected | Distal leg and shoulder muscles more affected | Distal leg and shoulder muscles more affected |
| Contractures | Knees, ankles | Ankles | Hips, knees, ankles, elbows | Hips, knees, jaw, ankles, fingers |
| Scoliosis | ++ | ++ | + | ++ |
| Deep tendon reflexes | Upper limbs present and lower limbs absent | ↓↓ | ↓ | Absent |
| Wheelchair dependence | From mid-50s | From early childhood | From high school | From early adolescence |
| Respiratory status affected | +, Nighttime bilevel positive airway pressure late in life | +, Shortness of breath | +, Recurrent pneumonia | +, Shortness of breath, sleep apnea |
| Surgical interventions | Hammertoe surgery | Spinal fusion surgery, heel cord lengthening | Rod placement for neck and upper back, spinal fusion, heel cord lengthening | Spinal fusion, heel cord lengthening |
Abbreviations: F, female; M, male; NEFL, neurofilament light polypeptide gene; +, present; ++, 2 or more areas; −, absent; ↓, decreasing; ↓↓, greatly decreasing.