SynopsisCodesDifferential Diagnosis & PitfallsBest TestsDrug Reaction DataReferences
Mitochondrial myopathy
Other Resources UpToDate PubMed

Mitochondrial myopathy

Contributors: Michael W. Winter MD, Jamie Adams MD
Other Resources UpToDate PubMed


Multisystemic inheritable disorders that involve skeletal muscle and are caused by dysfunction of mitochondrial oxidative phosphorylation. Clinical presentations are variable and can include muscle weakness, exercise intolerance, headache, hearing loss, heart defects and failure, coordination and balance disorders, dementia, vision loss, seizures, ptosis, growth retardation, developmental delay, and vomiting and other gastrointestinal illness. Disease onset, progression, and prognosis are dependent on each subtype.

The most common subtypes are Kearns-Sayre syndrome (KSS); Leigh syndrome; mitochondrial DNA deletion syndrome (MDS); mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes (MELAS); mitochondrial neurogastrointestinal encephalomyopathy (MNGIE); myoclonus epilepsy with ragged red fibers (MERRF); neuropathy, ataxia and retinitis pigmentosa (NARP); Pearson syndrome; and progressive external ophthalmoplegia (PEO).


G71.3 – Mitochondrial myopathy, not elsewhere classified

16851005 – Mitochondrial myopathy

Differential Diagnosis & Pitfalls

  • Metabolic myopathy (eg, glycogen storage diseases, lysosomal storage diseases)
  • Infectious myopathy (eg, Human immunodeficiency virus disease)
  • Drug-induced myopathies (eg, steroids, statins)
  • Inflammatory myopathy (eg, AL amyloidosis, Sarcoidosis)
  • Congenital myopathy
  • Duchenne muscular dystrophy
  • Myasthenia gravis
  • Lambert-Eaton myasthenic syndrome
  • Myotonic dystrophy
  • Polymyositis
  • Thyroid disease
  • Multiple sclerosis
  • Acute demyelinating encephalomyelitis
  • Susac syndrome

Best Tests

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Drug Reaction Data

Below is a list of drugs with literature evidence indicating an adverse association with this diagnosis. The list is continually updated through ongoing research and new medication approvals. Click on Citations to sort by number of citations or click on Medication to sort the medications alphabetically.

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Last Updated:01/19/2022
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Mitochondrial myopathy
A medical illustration showing key findings of Mitochondrial myopathy : Ataxia, CSF protein elevated, Eyelid ptosis, Muscle weakness, Ophthalmoplegia, Sensorineural deafness
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