Disease ID | Source | Name | Description |
607317 | OMIM | Spinocerebellar ataxia, autosomal recessive 4 (SCAR4) | A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR4 patients manifest ataxic gait with spasticity and hyperreflexia of the lower limbs resulting in difficulty walking. The age at onset is highly variable, ranging from early childhood to adulthood. The disease is caused by variants affecting the gene represented in this entry. |