Friedreich ataxia 2

A Friedreich ataxia that has_material_basis_in mutation in the 9p23-p11 chromosome region.

Signs and symptoms

• Abnormal EKG
• Abnormality of peripheral nerve conduction
• Concentric hypertrophic cardiomyopathy
• Mitochondrial malic enzyme reduced
• Abnormal spinocerebellar tract morphology
• Muscular subvalvular aortic stenosis
• Ataxia
• Abnormal pyramidal tract morphology
• Nystagmus
• Abnormal medulla oblongata morphology

Also known as: FRDA2