spinocerebellar ataxia 5

An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_material_basis_in mutation in the SPTBN2 gene.

Signs and symptoms

• Poor head control
• Strabismus
• Dysmetria
• Cerebellar atrophy
• Hypotonia
• Ataxia
• Intention tremor
• Horizontal jerk nystagmus
• Facial myokymia
• Hyperreflexia