autosomal dominant sensory ataxia 1

A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromos

A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromosome 8.

Signs and symptoms

• Hyporeflexia
• Gait ataxia
• Sensory ataxia
• Distal sensory impairment of all modalities
• Impaired distal proprioception
• Gait disturbance
• Dysarthria
• Areflexia
• Dysesthesia
• Abnormal vestibulo-ocular reflex

Also known as: ADSA; SNAX1