10 facts about dystonia and mitochondrial disease

3 May 2023

People affected by mitochondrial disease may also suffer from dystonia – uncontrollable and sometimes painful muscle spasms caused by incorrect signals from the brain. To mark Dystonia Awareness Week (3rd-11th May) we are sharing 10 facts about the disorder and its link to mitochondrial conditions.

  1. Dystonia is one of a range of different movement disorders common in mitochondrial diseases.

  2. Symptoms of dystonia can include uncontrolled muscle cramps and spasms. It can also include parts of the body twisting into unusual positions.

  3. There are many different types of dystonia that can affect the whole body or just one part.

  4. Dystonia can be extremely painful and very debilitating. It can make daily activities difficult and can have a huge impact on a person’s quality of life.

  5. In a study of children with mitochondrial dysfunction and a movement disorder, dystonia was the most common.

  6. The same study revealed that in adult patients with mito disease and a movement disorder, dystonia was the second most common.

  7. Dystonia is predominantly associated with genetic errors in the mitochondrial DNA but can also be associated with genetic errors in the nuclear DNA.

  8. Genetic errors in the mitochondrial DNA have been found in ~80% of children and adult patients with mitochondrial disease and dystonia.

  9. Dystonia is often associated with Leigh syndrome and Leber’s Hereditary Optic Neuropathy (LHON) but has also been reported with other mitochondrial diseases.

  10. There are treatments that can help relieve the symptoms of dystonia but they are not always effective.
This is James. He's 14 years old and has Leigh's Disease, and as part of this condition he suffers from dystonia. His dystonia causes him a lot of pain due to uncontrollable muscle spasms in his arms, legs, hands and feet.

To learn more about dystonia visit www.dystonia.org.uk.