Researchers Review Movement Disorders Associated with Mitochondrial Diseases

Researchers Review Movement Disorders Associated with Mitochondrial Diseases

Movement disorders are common among patients with mitochondrial diseases (MIDs). From mild tremors to severe involuntary movements, a broad spectrum of symptoms can be indicative of mitochondrial disease and should prompt an investigation as a possible diagnosis.

Many people have the genetic mutations associated with MID development. They can occur in mitochondrial genes inherited from the mother or in nuclear genes associated with the maintenance or expression of mitochondrial DNA (mtDNA). But it is not clear why some tissues are more affected than others, and more specifically involved in MIDs.

In a study titled “Movement disorders in mitochondrial diseases,” published in the journal Revue Neurologique, the authors reviewed some movement disorders that can be found in people with mitochondrial diseases and should be taken into account for a diagnosis.

The nervous system and muscles are tissues that require high levels of energy to function normally. Since mitochondria are the cellular organelles responsible for the production of energy, this can in part explain why mitochondrial diseases are often associated with movement disorders. Epilepsy, muscular contraction, involuntary jerking movements, double vision, and muscle dysfunction, or myopathy, are among the most common neurological signs in MID patients.

The authors focused on four specific movement disorders:

  • Cerebellar ataxia: The inability to coordinate balance, walk, and eye movements. It is one of the most prevalent neurological mitochondrial signs and, as such, MIDs should be investigated if the patient presents these symptoms.
  • Myoclonus: Also a classical sign of MID, it is characterized by the sudden and involuntary jerking movement of muscles.
  • Dystonia: Uncontrollable muscle contraction.
  • Parkinsonism: Similar to symptoms seen in Parkinson’s disease patients, such as tremor, slow movement, impaired speech or muscle stiffness.

Though parkinsonism is seen more commonly in patients with POLG1 mutations and myoclonus in patients with myoclonic epilepsy with ragged red fibers (MERFF), it is not possible to directly link a neurological sign or movement disorder with a specific mutation. Indeed, a single MID-associated mutation can be related to a wide variety of movement symptoms, either isolated or in combination, and with different levels of manifestation.

Movement disorders are highly associated with mitochondrial diseases, and so mild movement alterations or other neurological signs, such as migraines, cognitive disorders, or brain lesions should be considered as possible symptoms of MID.

“In cases of a particular clinical [neurological] spectrum (LHON, MERFF, Kearns-Sayre, SANDO, SPG7, ARCA2, ARSACS), a search for the most frequently implicated mutation(s) is recommended. In other cases, muscle biopsies followed by metabolic and genetic studies may be useful for arriving at a [MID] diagnosis,” the authors wrote.


  1. Jeffrey Yablon says:

    Scare tactic article propaganda for more wasted funding… from the AMA & allopathic medical mafia just to label something so they can sell more toxic drugs that have no cure but only to surpress until condition becomes labeled chronic. The best advice is to do few days intermittent dry fasting, clean out the gut with a detox juice clense, and eat a raw diet of only fruits which contain the exact amount of amini acids needed for humans (as well as gorillas) for a month or so and watch the symptoms go away ! Stop the BS already !

  2. Deborah Rogers Walker says:

    My neurologist in Augusta Ga felt I have Merff. I am 53 at this time and have been living with this forever. Most doctors call it sleep starts. That’s not what it is. I had an elevated pyruvate level and lactic acid twice when tested. I Jerking during day as well as night. I could not get to Emory to have muscle biopsy as I have no insurance. My symptoms are unsteady gate, falls, Jerking day or night, spasms, diabetic,gastrointestinal problems, asthma, HTC. Can’t even think of it all and vision disturbances. My daughter is starting to show signs. I am on baclofen 20mg in am along with Valium 10mg in am and pm, gabapentin 300mg at hs, and now just started Soma 40mg at hs. Have been on every Parkinson med you can name with no help. I can’t drive. Now seems the soma is causing my Gerd to act up and causing- reflux- to start asthma attacks bad at night. That is why I am up now. I need help please. I have lived with this for so long with no one dx it until my latest neurologist which I can no longer see with no insurance so my internist tries what he can. They said no one here really does anything here for it. I know there’s no cure but I need the best drugs that will treat it. I am a nurse and can’t work anymore and I’ve noticed cognitive changes now.please get back with me with any study ect. Thank you.

  3. Kendra folsom says:

    Both my adult sons have been identified by genetic testing as having NARP. The eldest has all of the movement issues you mention. Yet I never see NARP ever mentioned in any of your articles or UMDF articles. Why is this?

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