Table 2.

Follow-up: neurological and non-neurological manifestations

Patient/sex	Seizures (age)	Ataxia (age)	Movement disorder (age)	Tone/tendon reflexes	Other neurological symptoms and signs	Ophthalmological findings	Other
1/male	M1	–	–	Axial hypotonia, distal hypertonia/hyperreflexia	Aspiration
2/female	–	–	–	Axial hypertonia, distal hypertonia			Episodes of cyanosis
3/female	D6	–	–	Axial hypotonia, fluctuating distal tone	–
4/male	D1	–	Dystonia (D13)	Axial hypotonia, distal hypertonia	Autonomic dysfunction
5/male	M19	–	–	Generalised hypotonia/hyperreflexia	Bulbar dysfunction	Fluctuating ptosis
6/female	M4	M14	Chorea/dystonia (Y9M10)	Axial hypotonia, distal hypertonia	Microcephaly	Alternating exotropia (Lt)	Skeletal deformities
					Dysphagia	Pale optic disks	Fatigue
							Peripheral oedema
7/female	–	–	–	Spastic tetraparesis/hyperreflexia	Microcephaly		Skeletal deformities
					Cortical blindness		Irritability hepatomegaly
8/female	–	Y5M2	–	Axial hypotonia, distal hypertonia/hyperreflexia	Microcephaly Mild pseudobulbar dysfunction Sensorineural hearing loss	Ptosis (Lt) Retinal changes	Skeletal deformities
9/female	Y3	–	–	Axial hypotonia, distal hypertonia/hyperreflexia	Microcephaly	Divergent squint	Hyperlaxity of small joints
					Dysphagia		Sleep disturbance
					Lethargy
					Contractures
10/male	M2	–	Intermittent dystonia (Y10)	Axial hypotonia	Lethargy	Episode of unequal pupils	Feeding difficulties
				Developed spastic tetraparesis/hyperreflexia	Axonal neuropathy Aspiration Episodes of respiratory distress		Skeletal deformities Growth retardation Anxiety/panic attacks Easy bruising
11/male	M2	–	Chorea (M6)	Axial hypotonia, distal hypertonia	Lethargy	Pale optic disks; nystagmus	Feeding difficulties
					Distal weakness		Skeletal deformities
					Bulbar dysfunction
					Episodes of irregular breathing
					Fluctuating consciousness
12/male	–	–	–	Generalised hypotonia	Episodes lethargy and sweating
					Quadriplegia
					Bulbar dysfunction
					Respiratory decompensation
13/female	M22	Y3M9	Tremor (Y2M1)	Axial hypotonia, distal hypertonia	Episodes of irregular breathing	Alternating divergent squint	Skeletal deformities
					Contractures	Pale optic disks	Osteopenia
							Patella alta
							Premature pubarche
							Prolonged QT interval
							Fatigue
							Headaches
							Mild memory loss
							Episodic chest pain
							Sleep disturbance
14/female	–	Y4M11	–	Spastic tetraparesis	–		Growth retardation
							Autistic features
15/male	–	M12	Tremor (M12)	Generalised hypotonia/areflexia	Lethargy
					Episodic respiratory decompensation
					Bulbar dysfunction
					Fasciculations
16/male	M20	M14	Tremor (M20)	Generalised hypotonia/areflexia	Dysphagia	Intermittent ophthalmoplegia	Feeding difficulties
					Respiratory decompensation	Convergent strabismus	Fatigue
					Dysarthria		Hypertension
					Sixth nerve palsy		Tachycardia
							Prolonged QT interval orthopnoea
							Thumb hypermobility
							Episodes of hyperacusis
17/female	–	Y8M0	–	Distal hypertonia	Intermittent hemiplegia		Skeletal deformities
					Dysdiadochokinesia later persistent hemiplegia		Osteopenia
					Sensorineural hearing loss		Fatigue
							Headaches
							Short concentration span
18/male	–	Y2M3	Tics/grunts/chorea	Episodic axial hypotonia	Hyperreflexia Episodic lethargy/weakness	Astigmatism	Skeletal deformities
			(Y3M1)	Distal hypertonia	Peripheral neuropathy		Growth retardation
			Dystonia		Acute hemiparesis		Headaches
			(Y5M0)		Dysarthria		Daytime urine incontinence
19a/female	–	–	–	Normal	–
20b/female	M3	–	–	Distal hypotonia	Episodic respiratory distress	Optic atrophy
				Fluctuating distal tone	Aspiration

Y years, M months, D days, Sz seizures

^aAsymptomatic female patient diagnosed through cascade testing

^bPDHC deficiency secondary to HIBCH deficiency