Table 1.

Clinical presentation of infantile SOD1 deficiency syndrome (ISODDES)^a

	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5	Patient 6	Patient 7	Patient 8
Family	A	B	C	D	D	A	E	E
Sex	Male	Female	Female	Female	Male	Female	Female	Male
Age	8 years	4 years	4 years	13 years	10 years	5 years	9 years	3 years
Age of onset	9 months	6 months	10 months	9–12 months	∼ 10 months	6–7 months	5 months	5 months
Upper motor neuron symptoms	Generalized spasticity	Generalized spasticity	Generalized spasticity	Generalized spasticity	Generalized spasticity	Generalized spasticity	Generalized spasticity	Generalized spasticity
	Hyperreflexia	Hyperreflexia	Hyperreflexia	Hyperreflexia	Hyperreflexia
	Loss of abdominal reflex			Loss of abdominal reflex	Loss of abdominal reflex
Lower motor neuron symptoms	Axial hypotonia	Axial hypotonia	Axial hypotonia	Axial hypotonia	Axial hypotonia	Axial hypotonia	Axial hypotonia	Axial hypotonia
	Mild muscular atrophy		Generalized muscular atrophy	Generalized muscular atrophy	Generalized muscular atrophy
			Intermittent fasciculations	Intermittent fasciculations	Intermittent fasciculations
Bulbar symptoms	Spastic dysarthria	Spastic dysarthria	Spastic dysarthria	Spastic dysarthria	Spastic dysarthria	N/A	Multiphase dysphagia	Multiphase dysphagia
	Dysphagia	Dysphagia	Dysphagia	Mild dysphagia	Dysphagia
		Sialorrhea	Sialorrhea	Tongue atrophy & fasciculations	Sialorrhea
			Tongue atrophy & fasciculations		Tongue atrophy & fasciculations
Frontal lobe symptoms	Glabellar tap sign	Glabellar tap sign	–	Inadequate fits of laughter, onset at 13 years of age	Glabellar tap sign	N/A	–	–
		Inadequate crying			Inadequate fits of laughter, onset at 9 years
Excessive startle	+	–	–	–	–	–	Distress induced self-resolving tonic decerebrate posture	Distress induced self-resolving tonic decerebrate posture
Ocular symptoms	–	–	Bilateral optic atrophy	–	–	N/A	Bilateral optic atrophy	–
Dysmorphic symptoms	Low set, posteriorly rotated ears	Broad nasal bridge	–	Low set ears	Low set ears	Low set ears	–	Simplified outer helix of the right ear
								Hydrocephalus
	Overlapping toes			Overlapping toes	Overlapping toes	Overlapping toes
					Arched palate

^aComplete data not available for all patients.