Table 2.1.

Differential diagnosis of mitochondrial progressive external ophthalmoplegia

Ocular myopathies

Mitochondrial progressive external ophthalmoplegia (PEO)

Single mitochondrial DNA deletion

Mitochondrial DNA depletion deletions syndrome (MDDS)

Polymerase gamma (POLG) disease

Thymidine kinase 2 deficiency

Mitochondrial DNA point mutations

Mitochondrial progressive external ophthalmoplegia plus (PEO-plus)

Kearns–Sayre syndrome (KSS)

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Sensory ataxic neuropathy dysarthria ophthalmoplegia (SANDO)

PEO, optic atrophy, and deafness

Other PEO-plus

Myotonic dystrophy types 1 and 2

Oculopharyngeal muscular dystrophy (OPMD)

Oculopharyngodistal myopathy (OPDM)

Congenital myopathies

Limb-girdle muscular dystrophy (LGMD) with ophthalmoplegia

Graves’ disease

Orbital myositis (orbital pseudotumor)

Neuromuscular Junction Disorders

Myasthenia gravis

Congenital myasthenia gravis

Lambert–Eaton myasthenic syndrome (LEMS)

Neurogenic ophthalmoplegia

Multiple sclerosis

Anti-GQ1b syndrome

Miller–Fisher syndrome

Congenital with facial diplegia (Moebius syndrome)

A-beta lipoproteinemia

Supranuclear ophthalmoplegia

Progressive supranuclear palsy (PSP)

Hereditary ataxias

Hereditary spastic paraplegia (HSP)

Spastic paraplegia 7 (SPG7) and rarely spastic paraplegia 35 (SPG35)

Spinocerebellar ataxia (SCA)

SCA 1, 2, 3, 7, 9, 11, 28