autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2

A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heter

A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the RNASEH1 gene on chromosome 2p25.3.

Signs and symptoms

• Unsteady gait
• Muscle weakness
• Dysphagia
• Progressive external ophthalmoplegia
• Cytochrome C oxidase-negative muscle fibers
• Ragged-red muscle fibers
• Cerebellar atrophy
• Ataxia
• Skeletal muscle atrophy
• Increased circulating lactate concentration

Also known as: PEOB2; adult-onset CPEO with mitochondrial myopathy; adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy; autosomal recessive progressive external ophthalmoplegia 2