Did you know that dystonia – a neurological movement disorder – can be a symptom of mitochondrial disease? To mark Dystonia Awareness Month this September we’re sharing 10 facts about the disorder and its link to mitochondrial disease.
This is James with his parents, Angela and Iain. James is 16 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.
Here are 10 essential facts about how dystonia relates to mitochondrial disease.
1. Dystonia is a common movement disorder in mitochondrial conditions
Dystonia is one of several movement disorders frequently seen in people with mitochondrial disease. Others may include tremors, myoclonus or parkinsonism.
2. Dystonia causes involuntary muscle contractions
People with dystonia experience involuntary muscle cramps, spasms or twisting movements that can cause parts of the body to adopt abnormal or uncomfortable positions.
3. It can affect one or multiple parts of the body
Dystonia varies widely – it can be focal (affecting one body part), segmental (several) or generalised, impacting the whole body.
4. Dystonia can be painful and disabling
Muscle contractions can be painful and may limit a person’s ability to walk, write, speak or perform daily activities. This can have a significant impact on emotional wellbeing and independence.
5. It’s common in children with mitochondrial dysfunction
In clinical studies, dystonia was the most commonly observed movement disorder among children with mitochondrial disease.
6. It’s also prevalent in adults with mitochondrial diseases
Among adults with mitochondrial disease and a movement disorder, dystonia ranked as the second most common, highlighting its relevance across all age groups.
7. Dystonia is often linked to mitochondrial DNA (mtDNA) mutations
The condition is frequently associated with mutations in mitochondrial DNA (mtDNA). However, nuclear DNA mutations can also play a role.
8. Up to 80% of mito patients with dystonia have mtDNA mutations
Research suggests that 80% of children and adults with both dystonia and mitochondrial disease have identifiable mitochondrial DNA errors, underscoring a strong genetic link.
9. Certain mitochondrial syndromes are strongly associated with dystonia
Leigh Syndrome and Leber’s Hereditary Optic Neuropathy (LHON) are two examples where dystonia often appears as a symptom. It has also been reported in other mitochondrial conditions.
10. Treatment options do exist – but they’re not always effective
While there are therapies to reduce dystonia symptoms – such as medication, botulinum toxin injections, physiotherapy or deep brain stimulation – they don’t work for everyone. Research is ongoing to develop more effective and personalised treatment options.
Supporting awareness and research
At The Lily Foundation, we’re committed to raising awareness of lesser-known symptoms like dystonia to support earlier diagnosis, better care and improved quality of life for those living with mitochondrial disease.
For more information on dystonia, visit Dystonia UK, a leading charity supporting those affected by the condition.