Chronic progressive external ophthalmoplegia (CPEO): clinical features

Evidence-based neurology checklist on chronic progressive external ophthalmoplegia (cpeo): clinical features: PEO syndromes CPEO: this is isolated PEO Kearns Sayre syndrome (KSS) Dominant optic atrophy (DOA) Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) POLG mutation…

PEO syndromes

  • CPEO: this is isolated PEO
  • Kearns Sayre syndrome (KSS)
  • Dominant optic atrophy (DOA)
  • Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO)
  • POLG mutation syndromes
  • MELAS
  • MNGIE
  • Infantile-onset spinocerebellar ataxia (IOSCA)
  • MYH2 myopathy
  • Sporadic late-onset nemaline myopathy (SLONM)

Ophthalmic features

Other neurological features

Cardiac features

Endocrine features

Other features

Differential diagnosis

Acronyms

References

  1. McClelland C, Manousakis G, Lee MS. Progressive external ophthalmoplegia. Curr Neurol Neurosci Rep 2016; 16:53.
  2. Maghbooli M, Ghaffarpour M, Ghazizadeh T, Shalbaf NA, MalekMahmoudi G. Clinicogenetical variants of progressive external ophthalmoplegia - an especial review of non-ophthalmic manifestations. Neurol India 2020; 68:760-768. 
  3. Baskar D, Vengalil S, Nashi S, et al. MYH2-related myopathy: expanding the clinical spectrum of chronic progressive external ophthalmoplegia (CPEO). J Neuromuscul Dis 2023; 10:727-730.
  4. Wengert O, Meisel A, Kress W, et al. Progressive external ophthalmoplegia as initial manifestation of sporadic late-onset nemaline myopathy. J Neurol 2011; 258:915-917. 
  5. Maeda K, Idehara R. Paralytic exophthalmos in chronic progressive external ophthalmoplegia. Intern Med 2012; 51:989.
  6. And 16 more. Subscribe to see the full list

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