Management

Management
In some patients with pathogenic variants in the ANO10 gene, coenzyme Q10 (CoQ10) deficiency was observed within muscle tissue, cerebrospinal fluid, and plasma, which suggests that some patients may experience clinical improvements through the administration of CoQ10. It could have beneficial effects on mobility and fatigue. Additionally, slight improvements in cognition might also be observed. Interestingly, patients exhibiting a greater severity of ataxia had lower levels of CoQ10 in plasma. However, the correlation between plasma CoQ10 levels and phenotype severity necessitates further exploration to understand its implications fully. The evaluating clinicians can use additional medical interventions to alleviate some of the accompanying complications, as described by De Silva et al. (2019).

Surveillance
Similar to other ataxia types, regular follow-up (i.e. every six months) of patients with ANO10 variants is recommended to monitor their impairments, thus facilitating the objective progression recording with time. Generic rating scales such as the Scale for the Assessment and Rating of Ataxia (SARA) and the International Cooperative Ataxia Rating Scale (ICARS) can be used for this monitoring.