Clinical Characteristics

Neurological symptoms: These can include developmental delays, seizures, ataxia (lack of muscle control), neuropathy, and cognitive impairment.

Muscle weakness and wasting: Patients may experience progressive external ophthalmoplegia (PEO), which is weakness of the eye muscles, as well as muscle weakness and wasting in the limbs and trunk.

Gastrointestinal symptoms: These can include dysphagia (difficulty swallowing), constipation, and liver dysfunction.

Endocrine dysfunction: Patients may develop diabetes mellitus, hypothyroidism, or adrenal insufficiency.

Hearing and vision loss: Patients may experience sensorineural hearing loss and retinal degeneration.

Cardiac abnormalities: Patients may develop cardiomyopathy or conduction defects.