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Table 1 Detailed clinical features

From: Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?

 

Patient 1

Patient 2

Patient 3

Patient 4

Patient 5

General features

Current age (year)

3 y

2 y

7 y

5 y

2 y

Age at onset (month)

7 m

9 m

12 m

15 m

12 m

Gender

M

M

F

M

M

Consanguinity

Yes

Yes

Yes

Yes

Yes

Ancestry

Lebanese

Lebanese

Lebanese

Lebanese

Lebanese

Gestational and neonatal history

Polyhydramnios

Yes

Yes

No

Yes

Yes

Reduced fetal movements

No

Yes

No

Yes

No

Intrauterine growth restriction

Yes

No

No

Yes

Yes

Premature labor

Yes

No

No

Yes

No

Apgar score (1’/5’)

5/7

7/9

9/10

3/5

7/9

Hypotonia (at birth)

Moderate

Mild

No

Severe

No

Bulbar dysfunction (at birth)

No

Dysphagia

No

Dysphagia

No

Respiratory distress (at birth)

No

No

No

Yes

No

Congenital dislocation of hip

Bilateral

Bilateral

No

Bilateral

No

Clinical features

Spastic tetraplegia

Yes

Yes

Yes

Yes

Yes

Axial hypotonia

Yes

Yes

Yes

Yes

Yes

Cervical weakness

Yes

Yes

No

Yes

No

Proximal muscle weakness

Yes

Yes

Yes

Yes

Yes

Distal muscle weakness

Yes

Yes

Yes

Yes

Yes

Muscle atrophy

Proximal/tongue

Proximal/tongue

Proximal/tongue

Proximal/distal/tongue

Proximal/distal/tongue

Fasciculations

T/C/LL

T/C/UL/LL

T/C/UL/LL

T/C/UL/LL

T/LL

Facial myokymia

Yes

No

Yes

Yes

No

Facial weakness

Yes

Yes

Yes

Yes

No

Dysphagia

Yes

Yes

Yes

Yes

Yes

Gastrostomy feed

Yes

Yes

Yes

Yes

Yes

Tracheostomy

No

Yes

Yes

Yes

No

Ventilatory support

Non-invasive

Invasive

Invasive

Invasive

Non-invasive

Brisk tendon reflexes

Yes

Yes

Yes

Yes

Yes

Babinski sign

Yes

Yes

Yes

Yes

Yes

Scoliosis

No

No

Yes

Yes

Yes

Dysarthria

Yes

Yes

Yes

Yes

Yes

Language defects

Yes

Yes

Yes

No

No

Cognitive impairment

Severe

Moderate

Mild

No

No

Eye movements

Oculomotor apraxia

Oculomotor apraxia

Normal

Oculomotor apraxia

Normal

Optical fundoscopy

Optic atrophy

Normal

Normal

Optic atrophy

Normal

Epilepsy

No

Yes

No

No

No

Brainstem auditory evoked potentials

Normal

Normal

Normal

Normal

Normal

Microcephaly

Yes

Yes

No

No

No

Short Stature

Yes

Yes

No

Yes

No

Constipation

Yes

Yes

Yes

Yes

Yes

Best motor milestone achieved

Head control

Sit unassisted

Walk independently

Walk independently

Sit unassisted

Ambulatory status

Wheelchair

Wheelchair

Wheelchair

Wheelchair

Wheelchair

CPK (UI/L)

520

610

780

630

400

  1. C: Cervical. F: female. LL: lower limb. M: male. T: tongue. UL: upper limb.