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Mitochondrial Myopathy

Skeletal muscle disease from mitochondrial DNA or nuclear DNA mutations affecting energy metabolism.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Nöroloji department. Book Appointment →

What is Mitochondrial Myopathy?

Mitochondrial myopathies result from mutations in genes encoding components of the oxidative phosphorylation system, located in either mitochondrial DNA (maternal inheritance) or nuclear DNA (Mendelian inheritance).

Common syndromes include chronic progressive external ophthalmoplegia (CPEO), Kearns-Sayre syndrome (KSS), MELAS (mitochondrial encephalopathy, lactic acidosis, stroke-like episodes), MERRF (myoclonic epilepsy with ragged-red fibres) and mitochondrial DNA depletion syndromes.

Multisystem involvement is the rule: nervous system, heart, eyes, ears, endocrine and gastrointestinal systems are frequently affected in addition to skeletal muscle.

Symptoms

Exercise intolerance, fatigability and proximal muscle weakness
Ptosis and progressive external ophthalmoplegia (CPEO)
Stroke-like episodes with cortical visual loss or hemiparesis (MELAS)
Myoclonic seizures, ataxia and muscle wasting (MERRF)
Pigmentary retinopathy, cardiac conduction block and short stature (KSS)
Sensorineural hearing loss
Diabetes mellitus, hypothyroidism, hypoparathyroidism and short stature
Cardiomyopathy (hypertrophic or dilated) and conduction defects
Encephalopathy, dementia and migraine

Risk Factors

Maternal family history (mitochondrial DNA inherited maternally)
Consanguineous parents (autosomal recessive nuclear forms)
Onset in any age but symptoms often appear in childhood, adolescence or early adulthood
Drug-induced mitochondrial toxicity from antiretrovirals, statins, valproate, aminoglycosides
Alcohol abuse may unmask underlying mitochondrial dysfunction
Pregnancy, surgery, infection or fasting may precipitate metabolic decompensation

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Persistent unexplained muscle weakness with exercise intolerance and elevated CK warrants neurology evaluation
  • Progressive external ophthalmoplegia or ptosis without clear cause needs metabolic workup
  • Recurrent stroke-like episodes in young adults, especially with maternal family history, suggests MELAS
  • Multisystem disease (cardiomyopathy, deafness, diabetes) with muscle symptoms requires mitochondrial evaluation
  • Family planning and pregnancy in mitochondrial disease patients require genetic counselling and high-risk obstetric care

Treatment Methods

01
Diagnostic workup: serum lactate and pyruvate (often elevated), creatine kinase, exercise testing with lactate measurement
02
Brain MRI for stroke-like episodes (MELAS) and basal ganglia changes (Leigh syndrome)
03
Muscle biopsy: ragged-red fibres on Gomori trichrome, cytochrome c oxidase-negative fibres, abnormal mitochondria on electron microscopy
04
Molecular genetic testing: mitochondrial DNA sequencing and nuclear gene panels
05
No curative treatment; management is supportive and multidisciplinary
06
Mitochondrial cocktail: coenzyme Q10, riboflavin, thiamine, levocarnitine, vitamin C, vitamin E (variable evidence)
07
Treat acute stroke-like episodes with intravenous arginine, antiseizure medication and supportive care
08
Avoid mitochondrial toxins: aminoglycosides, valproate, statins, prolonged propofol
09
Cardiac pacing for conduction block (KSS), hearing aids or cochlear implants for sensorineural deafness
10
Pre-implantation genetic diagnosis or oocyte donation to prevent maternal transmission of severe mitochondrial DNA disease

Which Department to Visit?

You can visit our Nöroloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.