spinocerebellar ataxia 44

An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the GRM1 gene on chromosome 6q24.

Signs and symptoms

• Dysmetria
• Cerebellar atrophy
• Gait ataxia
• Ataxia
• Dysdiadochokinesis
• Hypermetric saccades
• Tinnitus
• Frequent falls
• Dysphagia
• Delayed speech and language development