autosomal dominant cerebellar ataxia

autosomal dominant cerebellar ataxia is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

The condition is characterized by a slowly progressive ataxia of gait, stance, and limbs, as well as dysarthria and/or oculomotor disorder due to cerebellar degeneration. It is classified under the umbrella of autosomal dominant hereditary ataxias, with synonyms including spinocerebellar ataxia and Pierre Marie cerebellar ataxia. The prevalence is noted as uncommon.

Patients and caregivers are encouraged to seek consultation with specialists experienced in neurodegenerative diseases. Genetic counseling may be beneficial for understanding inheritance patterns. Connecting with rare disease registries and online patient communities can provide additional support and resources.