autosomal recessive cerebellar ataxia with late-onset spasticity

Autosomal recessive cerebellar ataxia with late-onset spasticity is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

This condition is characterized by childhood or adolescent-onset cerebellar ataxia that progresses to include spasticity and pyramidal signs. It is associated with GBA2 deficiency, but specific inheritance patterns and phenotypes are not documented. There are currently no orphan drugs under investigation.

Patients and caregivers are encouraged to seek genetic counseling to understand the implications of this inherited condition. Connecting with rare disease registries and online patient communities may provide additional support and resources.