Features by patients with SCAR12:
- Unable to coordinate movement of muscles leading to problems with walking, speech and also abnormal eye movements.
- Muscle weakness, tight muscles, overactive reflexes and clonus.
- Generalised tonic-clonic epilepsy and psychomotor development delay.
- Slurred or slow speech that can be difficult to understand.
- Gaze-evoked nystagmus where the eyes make repetitive, uncontrolled movements.
- Learning disability.
- Mild cerebellar atrophy is usually visible on a brain MRI.
Features by patients with WOREE:
- Seizures appear within 2 months.
- Lack of crying.
- Some difficulty in coordinating swallowing when feeding.
- Feeding and sleeping difficulties from birth.
- Eye deviation and twitching.
- Brain MRI’s typically shows a thin corpus callosum and delayed myelination.
- Dysmorphic features (round hypotonic face, full cheeks, and short neck) and spine.
- deformity may be early associated signs that may support the diagnosis.
- In most cases patients are not able to sit, speak, or walk.
- Axial hypotonia (abnormally low muscle tone).
- Variable rigidity, spasticity, hyperreflexia (overresponsive reflexes), and hypokinesia (slowed muscle movement).
- Children have poor to no neck control.
- Moderate to severe scoliosis is a major co-morbidity.
- Metabolic problems, for instance poor calcium absorption, were also reported.