Table 4.
Symptoms at presentation in 40 children with congenital myasthenic syndrome (CMS)
| Symptom | Percentage of cohort affected | Genotypes affected |
|---|---|---|
| Gait abnormality | 17.5% (7/40) | CHAT (1/2), COLQ (2/10), DOK7 (3/12), RAPSN (1/6) |
| Vocal cord palsy | 12.5% (5/40) | DOK7 (4/12), CHRNE FCS (1/1) |
| Status epilepticus | 5.0% (2/40) | COLQ (2/10) |
| Frequent falls | 5.0% (2/40) | COLQ (1/10), DOK7 (1/12) |
| Scoliosis | 32% (13/40) | COL13A1(1/2), COLQ (2/10) DOK7(6/12), CHAT (1/2), FCS (1/1) RAPSN (1/6), CHRNG (1/1) |
| Arthrogryposis | 12.5% (5/40) | RAPSN (4/6) CHRNG (1/1) |
| Gastro-oesophageal reflux disease | 12.5% (5/40) | DOK7(2/12), CHRNE (1/4), FCS (1/1), CHRNG (1/1) |
| Episodic apnoeas | 37.5% (15/40) | COLQ (3/10), DOK7(2/12), FCS (1/1), CHAT (2/2), RAPSN (6/6) COL13A1 (1/2) |
Ordered by decreasing prevalence and broken down by genotypes affected.