Conditions / Genetic
autosomal dominant progressive external ophthalmoplegia 1
info · Genetic
A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG gene on chromosome 15q26.1.
Signs and symptoms
- Bradykinesia
- Exercise intolerance
- Parkinsonism
- Resting tremor
- Facial palsy
- Premature ovarian insufficiency
- Gait ataxia
- Rigidity
- Slurred speech
- Limb muscle weakness
Also known as: PEOA1