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 |