Your symptoms are real. The quest for a organic biomarker for Dystonia diagnosis

Joaquin Farias PHD, MA, MS

In my more than 25 years of practice helping patients affected by Dystonia I have had the opportunity to analyse more than 9000 medical histories of patients. One theme is constant, most patients needed many years in order to have a proper diagnosis and receive the care they needed. This is particularly important if we consider that time counts and the ideal situation is to start a proper rehabilitation right after the first symptoms of dystonia appear. Shockingly, the average time for the patients to receive an accurate diagnosis worldwide in 2023 is 10 years.

Is Dystonia hard to diagnose?

The patients’ struggle to obtain a proper diagnosis

Since the first symptoms start, patients struggle with the symptoms without knowing what has happened to them. This causes enormous stress, trying to cope with the deficits which make no sense to them. They normally try to fix the spasms going to massage, regular physical therapy, alcohol or marijuana. There is always a moment where one of the practitioners they visit, normally the physical therapist, will suggest that maybe the problem is neurological and it is then they will book an appointment with a neurologist.

Conventional diagnosis in 2023

Months later they will see a neurologist, a clinical examination will be performed, probably a structural MRI or an electromiography will be performed and dystonia diagnosis will be received – always accompanied by your doctor saying the MRI is fine and all the tests are normal, you have a primary or idiopathic dystonia (is due to unknown cause). The lack of a conclusive biological marker produces anxiety in the patient and family members, and also some doctors and other therapists can suggest that the problem is just stress, a form of psychogenic somatization or even a way to obtain a secondary gain. These assumptions often lead the patient to fall into depression, feeling that they are not only facing a very complex medical situation but also that they are alone in the process and cannot benefit from emotional and medical support.

Which treatment will be offered?

A treatment will follow mostly based on Botulinum toxin injections and medication, if the patient does not find relief, Deep brain stimulation will be posed as the option of choice. Unfortunately, the idea of following a neuro-rehabilitation protocol similar to the ones designed for patients affected by stroke will not even be considered as an option in most countries worldwide.

Dystonia Diagnosis Transformed: The Birth of DystoniaNet

A new groundbreaking development has emerged from the hallowed halls of Harvard University, specifically the Harvard Brain Science Initiative. Researchers Valeriani D and Simonyan K have paved the way for a new era in understanding dystonia with their creation, DystoniaNet. This 3D convolutional neural network harnesses the power of machine learning to reshape our approach to diagnosing dystonia.

The DystoniaNet Revolution

DystoniaNet represents a revolution in the realm of dystonia diagnosis, offering a fresh perspective and novel solutions to an age-old problem.

Exceptional Accuracy

One of the most astounding attributes of DystoniaNet is its unparalleled accuracy. By being meticulously trained and optimized on a dataset that encompassed 440 patients and controls, this innovative neural network achieved an astonishing accuracy rate of 98.8% in diagnosing dystonia across its various forms. This exceptional level of precision promises to significantly reduce the frequency of misdiagnoses, ensuring that patients receive prompt and accurate care.

Efficiency and Swiftness

DystoniaNet is not only remarkably accurate but also incredibly efficient and speedy. It operates at a pace that leaves traditional diagnostic methods in the dust, providing results in just a fraction of a second, averaging around 0.36 seconds. This swift diagnostic process not only accelerates patient care but also alleviates the anxiety associated with prolonged waiting times for results.

Interpretability and Discovery

DystoniaNet doesn’t stop at accuracy and efficiency; it offers a layer of interpretability that sets it apart. Through an analysis of its internal model, this neural network uncovered a novel data-driven biomarker for dystonia. This biomarker comprises specific brain regions, including the corpus callosum, anterior and posterior thalamic radiations, inferior fronto-occipital fasciculus, and inferior temporal gyri and superior orbital gyri. These regions have previously been identified as microstructurally abnormal in dystonia patients, but DystoniaNet made this discovery autonomously, illustrating its potential for groundbreaking insights and discoveries in the future.

A Promising Future for Dystonia Diagnosis

DystoniaNet’s potential knows no bounds. Its transformative capabilities hold the promise of reducing misdiagnosis rates and expediting the diagnostic process, thus ensuring timely treatment for dystonia patients. The visionary researchers behind DystoniaNet envision its implementation as a cloud-based platform in clinical settings. In this scenario, clinicians can upload a patient’s MRI, and within seconds, receive a precise diagnosis. This technological leap heralds a new era in the clinical management of dystonia.



We now have a biological marker and now what?

This new findings of microstructural markers in the brains of  patients affected by Dystonia is a very important milestone, now we know that the “your MRI showed that it is all fine” is not true. These new findings will help patients request further research and improved treatments. If structural changes in the brain have been identified, proper neuro-rehabilitation protocols have to be offered to patients as soon as possible after the diagnosis. We know that rehabilitation can lead to structural and functional changes in the brain Neuroplasticity offering a beacon of hope for Dystonia patients in the future, that starts today.