• The salient features of autosomal recessive spinocerebellar ataxia-20 include severe intellectual disability, absent to severe speech delay, gait instability and coarse facies.
• Most of the individuals are usually normal at birth. Decreased muscle tone is also observed in majority of the individuals.
• Musculoskeletal features like abnormal curvature of spine and stiff joints, hearing deficit and cardiac issues are present in few individuals.
SNX14