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What is Dystonia?

Dystonia describes movement disorders in which unwanted muscle contractions lead to twisting or jerking movements or sustained postures. This can happen constantly when a person is at rest, or when they start to move, or just now and again for no obvious reason.

When you decide to move, the ‘thinking’ part of your brain sends a message to your muscles. But before that message gets there, it needs to pass through some processing centres that refine the signal, and make sure only the correct muscles are activated. These processing centres are quite complicated, and we don’t fully understand how they are wired up. Because dystonia reflects a problem in action processing, studying it can tell us more about how the brain controls movement.

There are many types of dystonia and we are interested in all the ones that run in families. Some disorders are caused by mutations in single genes. These are extremely useful for research, because once we know a gene is important we can figure out what it is doing, and what other genes it works with to do its job. This could give us clues about how to make better drugs to treat dystonia. 

If a movement disorder runs in your family, talk to your neurologist about contacting our clinical team. We may be able to tell you what is causing it, and you will be making an important contribution to the science of how our brains control movement.

Our Latest Publications on Dystonia 

Heterozygous EIF2AK2 Variant Causes Adolescence-Onset Generalized Dystonia Partially Responsive to DBS

Magrinelli et al, 2022


Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review

D’onofrio et al, 2022


Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy

Magrinelli et al, 2022


Dissecting the Phenotype and Genotype of PLA2G6- Related Parkinsonism

Magrinelli et al, 2022


A Novel Homozygous ADCY5 Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities

Kaiyrzhanov et al, 2021

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