A Rare Phenotype of Inherited Cerebellar Ataxia

Ataxia is a syndrome of imbalance and incoordination, categorized as hereditary ataxias, degenerative ataxias (non-hereditary), and acquired ataxias. Hereditary ataxia is further classified based on its mode of inheritance. Here, we have reported a case of early-onset autosomal recessive cerebellar ataxia with retained reflexes in a young male with positive family history. A young male presented with ten years history of tremors in both hands and head, aggravated with work and relieved with rest, and imbalance while walking, which has now progressed to the level where the patient cannot walk without support. The patient’s younger brother also had a similar history. Central nervous system examination revealed cerebellar ataxia with retained reflexes. After ruling out other causes of ataxia in this age group by investigations, we could make the diagnosis of early-onset cerebellar ataxia with retained tendon reflexes (autosomal recessive). Presenting as a disease of variable presentation, the important diagnostic cues are classification and localization of ataxia. The investigations should be focusing on those cases of ataxias that are treatable. Family history is important to identify hereditary ataxias, as well as in genetic counselling of the affected patients.