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

Table 1 Detailed clinical features

	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

ISSN: 1750-1172