Table 1.
Characteristics of patients with HSAN1 (n = 23).
| Demographic characteristics | Number (proportion) or median (range) | |||
|---|---|---|---|---|
| Gender | ||||
| Men | 10 (43%) | |||
| Women | 13 (57%) | |||
| Age (years) | 52.2 (range 28–79) | |||
| Mutation | ||||
| C133Y | 20 (87%) | |||
| C133W | 3 (13%) | |||
| Symptoms | ||||
| Loss of sensation (n = 23) | 23 (100%) | |||
| Weakness (n = 23) | 21 (91%) | |||
| Balance abnormality (n = 23) | 21 (91%) | |||
| Shooting pain (n = 23) | 23 (100%) | |||
| Ulcers (n = 23) | 17 (74%) | |||
| Amputations (n = 23) | 8 (35%) | |||
| Changes in sweating (n = 23) | 8 (35%) | |||
| Orthostasis (n = 23) | 3 (13%) | |||
| Symptom age of onset (years) | ||||
| First symptom (n = 23) | 20 (14–54) | |||
| Sensory loss feet (n = 23) | 20 (14–54) | |||
| Sensory loss hands (n = 15) | 32 (22–59) | |||
| Weakness feet (n = 18) | 27 (20–60) | |||
| Weakness hands (n = 15) | 39 (25–70) | |||
| First ulcer (n = 17) | 29 (15–70) | |||
| Shooting pain (n = 19) | 30 (15–70) | |||
| Balance difficulty (n = 19) | 30 (21–70) | |||
| Symptom onset in men vs. women | ||||
|---|---|---|---|---|
| Men (mean age, in years) | Women (mean age, in years) | |||
| First symptom | 21.2 (n = 10, SD = 9.6) | 29.5 (n = 13, SD = 14.9) | P = 0.0410 | |
| Onset weakness | 30.3 (n = 6, SD = 10.4) | 35.4 (n = 12, SD = 15.4) | P = 0.4777 | |
| First ulcer | 27.2 (n = 9, SD = 12) | 39 (n = 8, SD = 16.2) | P = 0.1059 | |
| Balance difficulty | 31.9 (n = 7, SD = 11.8) | 39.9 (n = 12, SD = 16.4) | P = 0.2758 | |
HSAN1, hereditary sensory autonomic neuropathy type 1; SD, standard deviation.