Table 3.

Symptoms at presentation in 40 children with congenital myasthenic syndrome (CMS)

Symptom	Percentage of cohort affected	Genotypes affected
Respiratory insufficiency	52.5% (21/40)	CHAT (2/2), CHRNG (1/1), COL13A1 (2/2), COLQ (5/10), DOK7 (6/12), CHRNE FCS (1/1), RAPSN (4/6)
Feeding difficulties	37.5% (15/40)	CHAT (2/2), CHRNE (2/4), COL13A1 (1/2), COLQ (3/10), DOK7 (4/12), RAPSN (3/6)
Fatigue	27.5% (11/40)	CHAT (1/2), CHRNA1 (1/1), CHRNE (2/4), COLQ (3/10), DOK7 (3/12), RAPSN (1/6)
Muscle weakness	27.5% (11/40)	CHAT (1/2), COLQ (3/10), DOK7 (4/12), SCS (1/1), RAPSN (2/6)
Motor delay	27.5% (11/40)	CHAT (2/2), DOK7 (4/12), COLQ (2/10), RAPSN (3/6)
Ptosis	25.0% (10/40)	CHAT (1/2), CHRNE (2/4), COLQ (4/10), DOK7 (2/12), CHRNA SCS (1/1)
Hypotonia	17.5% (7/40)	COL13A1 (1/2), COLQ (1/10), DOK7 (2/12), RAPSN (3/6)

Ordered by decreasing prevalence and broken down by genotypes affected.