cerebellar ataxia type 43

An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromoso

An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2.

Signs and symptoms

• Ataxia
• Postural instability
• Sensorimotor neuropathy
• Pectus carinatum
• Tremor
• Limb ataxia
• Distal sensory impairment
• Hyporeflexia
• Pes cavus
• Dysarthria

Also known as: SCA43