ANO10 variants are known to cause ataxia, which means loss of coordination. Specifically, patients suffer from imbalance, unsteady gait, and limb incoordination. Additionally, affected individuals might exhibit speech, swallowing and eye movement impairment. Nystagmus is a condition where the eyes move rapidly, repetitively, and uncontrollably, such as side to side, up and down or a slow upward drift of the eye followed by a fast beat-like downward phase. Hypermetric saccades could also be present in some patients, where the patient’s eyes overshoot the target. Furthermore, another symptom that SCAR10 patients might present is increased knee reflex.
ANO10