WWOX

Clinical Characteristics

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.