| Disease ID | Source | Name | Description |
| 607250 | OMIM | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 (SCAN1) | A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAN1 is an autosomal recessive cerebellar ataxia (ARCA) associated with peripheral axonal motor and sensory neuropathy, distal muscular atrophy, pes cavus and steppage gait as seen in Charcot-Marie-Tooth neuropathy. All affected individuals have normal intelligence. The disease is caused by variants affecting the gene represented in this entry. |