Table 1.
Demographic and clinical characteristics of total CMS cohort and patients with causative variants in CHRNE
| Total cohort (n = 28) | CHRNE (n = 13) | |
|---|---|---|
| Sex, female (%) | 18 (64.3) | 8 (61.5) |
| Positive family history (%) | 10 (35.7) | 7 (53.8) |
| Age group at onset (%)a | ||
| At birth | 7 (26.9) | 3 (23.1) |
| Infancy (< 1 year) | 6 (23.1) | 4 (30.8) |
| Childhood (1–13 years) | 11 (42.3) | 6 (46.2) |
| Adolescence (13–18 years) | 1 (3.8) | 0 (0) |
| Adulthood (> 18 years) | 1 (3.8) | 0 (0) |
| Genetic analysis leading to molecular diagnosis (%)b | ||
| Single gene testing | 6 (27.3) | 2 (22.2) |
| Next-generation sequencing | 16 (72.7) | 7 (77.8) |
| Repetitive nerve stimulation (%)c | ||
| Decrement | 5 (62.5) | 3 (50.0) |
| Normal | 3 (37.5) | 3 (50.0) |
| Mobility (%)d | ||
| Independent | 20 (76.9) | 12 (92.3) |
| Walking aid/rollator | 1 (3.8) | 0 (0) |
| Wheelchair | 5 (19.2) | 1 (7.7) |
| Medical treatment (%) | ||
| Pyridostigmine | 20 (71.4) | 13 (100) |
| Adrenergic agonists | 11 (39.3) | 1 (7.7) |
| Amifampridine | 9 (32.1) | 4 (30.8) |
| No treatment reported | 1 (3.6) | 0 (0) |
aAvailable for 26 individuals of the total cohort and for all 13 individuals of the CHRNE cohort
bAvailable for 22 individuals of the total cohort and 9 individuals of the CHNRE cohort
cAvailable for eight individuals of the total cohort and 6 individuals of the CHNRE cohort
dAvailable for 26 individuals of the total cohort and all 13 individuals of the CHNRE cohort