autosomal recessive progressive external ophthalmoplegia 1

info · Genetic

A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the POLG gene on chromosome 15q26.1.

Signs and symptoms

Dystonia
Gait ataxia
Difficulty climbing stairs
Distal muscle weakness
Muscle fiber atrophy
Proximal muscle weakness
Bilateral ptosis
Truncal ataxia
Ragged-red muscle fibers
Diplopia

Also known as: PEOB1