TABLE 1.

Clinical features of three patients with de novo GARS variants and infantile SMA presentation with respiratory distress

	Patient 1	Patient 2	Patient 3
Pathogenic variant	c.1001T>A (p.Ile334Asn)	c.1001T>A (p.Ile334Asn)	c.1954G>C (p.Gly652Arg)
Inheritance	de novo	de novo	de novo
Age of presentation	9 weeks	6 weeks	Day 0
Age at most recent encounter	6 months	39 months	14 months
Initial presentation of respiratory distress, poor feeding and muscle weakness	+	+	+
Neurologic
Hypotonia, lower extremities > upper extremities	+	+	+
Fasciculations	+	−	+
Hyporeflexia	+	+	+
Atrophy	−	+	+
Pes Cavus	−	+	−
Contractures	−	+	+
Sensory impairment	a	+	−
Respiratory
Stridor	+	+	+
Weak cry	+	+	+
Elevated right diaphragm	+	+	b
Chronic ventilation	+	+	+
Feeding/nutrition
Poor feeding	+	+	+
G-tube dependent	+	+	+

^aAbsence of sural nerve response.

^bPoor diaphragm movement noted on ultrasound.