Table 2.
Comparison of the clinical features observed in individuals with NDC1 and AAAS variants
| Clinical manifestations | NDC1 | AAAS |
|---|---|---|
| Adrenal insufficiency | – | + |
| Neurological features | ||
| Dysphagia/achalasia | + | + |
| Clinical signs of polyneuropathy | + | +/− |
| Hypotonia | +/− | +/− |
| Hyporeflexia | + | – |
| Muscular atrophy | + | +/− |
| Hypertonia | +/− | + |
| Tongue fasciculations/atrophy | +/− | +/− |
| Epilepsy | +/− | +/− |
| Facial weakness | +/− | +/− |
| Developmental delay | + | + |
| Dysautonomia | ||
| Alacrima | + | + |
| Postural hypotension | – | +/− |
| Abnormal heart responses | +/− | +/− |
| Sexual dysfunction | – | +/− |
| Dermatological manifestations | ||
| Hyperpigmentation | – | +/− |
| Hyperkeratosis | +/− | +/− |
| Cutis anserine | – | +/− |