Conditions / Genetic
spinocerebellar ataxia 1
info · Genetic
An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p2
An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22.
Signs and symptoms
- Decreased amplitude of sensory action potentials
- Impaired vibratory sensation
- Muscle spasm
- Olivopontocerebellar atrophy
- Gaze-evoked nystagmus
- Hypotonia
- Generalized hypotonia
- Nystagmus
- Slow saccadic eye movements
- Dorsal column degeneration