There is no specific treatment or cure for CA8-related cerebellar ataxia, and management is supportive. Individuals with CA8-related cerebellar ataxia are best supported by a multidisciplinary healthcare team, which may consist of a general paediatrician, neurologist, physical therapist, occupational therapist and psychologist.
Management and surveillance approach might include:
• MRI brain at time of diagnosis, with repeat scanning if worsening neurological symptoms or developmental regression
• Engagement with a general paediatrician to survey growth and development, support early intervention and learning supports and case manage medical investigations and specialist referrals.
• Engagement with a neurologist to qualify, monitor and support ataxia, gait assessment and cerebral imaging findings.
• Physical therapy has the potential improve motor function and limit devolution to bipedality.
• Occupational therapy to support mobility aids and/or home modifications if needed.
• Individuals and families may benefit from psychosocial support from a psychologist, social worker or their extended medical and allied health team.
• Referral to a geneticist or genetic counsellor to discuss genetic and inheritance aspects and permit future reproductive planning for individual and family members.
CA8