This is James pictured with his parents, Angela and Iain. James is 15 years old and has Leigh Syndrome. He was born a healthy, happy baby in November 2008, but when he was three, he had a serious bout of tonsillitis. This somehow triggered his mitochondrial disease symptoms.
Over the course of the following year he underwent numerous tests and procedures which led to the ultimate diagnosis of Leigh’s disease. 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 mark Dystonia Awareness Week we’re sharing 10 facts about the disorder and its link to mitochondrial diseases.
- Dystonia is one of a range of different movement disorders common in mitochondrial conditions.
- Symptoms of dystonia can include uncontrolled muscle cramps and spasms. It can also include parts of the body twisting into unusual positions.
- There are many different types of dystonia that can affect the whole body or just one part.
- Dystonia can be extremely painful and debilitating. It can make daily activities difficult and can have a huge impact on a person’s quality of life.
- In a study of children with mitochondrial dysfunction and a movement disorder, dystonia was the most common.
- The same study revealed that in adult patients with mitochondrial disease and a movement disorder, dystonia was the second most common.
- Dystonia is predominantly associated with genetic errors in the mitochondrial DNA but can also be associated with genetic errors in the nuclear DNA.
- Genetic errors in the mitochondrial DNA have been found in ~80% of children and adult patients with mitochondrial disease and dystonia.
- Dystonia is often associated with Leigh Syndrome and Leber’s Hereditary Optic Neuropathy (LHON) but has also been reported with other mitochondrial diseases.
- There are treatments that can help relieve the symptoms of dystonia but they are not always effective.
To learn more about dystonia visit DystoniaUK.