Contents

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

Synopsis

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).

Codes

ICD10CM:
G71.3 – Mitochondrial myopathy, not elsewhere classified

SNOMEDCT:
16851005 – Mitochondrial myopathy

Differential Diagnosis & Pitfalls

To perform a comparison, select diagnoses from the classic differential

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Best Tests

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Drug Reaction Data

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References

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