autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6

A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in the DNA2 gene on chromosom

A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in the DNA2 gene on chromosome 10q21.3.

Signs and symptoms

• Multiple mitochondrial DNA deletions
• Gait disturbance
• Progressive external ophthalmoplegia
• Pelvic girdle muscle weakness
• Ptosis
• Gowers sign
• Exertional dyspnea
• Exercise intolerance
• Elevated circulating creatine kinase activity
• Myopathy

Also known as: DNA2-related mitochondrial DNA deletion syndrome; PEOA6; autosomal dominant progressive external ophthalmoplegia 6; mitochondrial DNA deletion syndrome with limb-girdle weakness; mitochondrial DNA deletion syndrome with progressive myopathy