Conditions / Genetic
autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5
info · Genetic
A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the TOP3A gene on chromosome 17p11.2.
Signs and symptoms
- Broad-based gait
- Dysphagia
- Elevated circulating creatine kinase activity
- Diplopia
- Dysmetria
- Cerebellar atrophy
- Progressive external ophthalmoplegia
- Dysarthria
- Ataxia
- Arrhythmia
Also known as: PEOB5; autosomal recessive progressive external ophthalmoplegia 5