Dystonia Needs Our Awareness

Awareness months dedicated to certain conditions and diseases allow us at FindMeCure to become advocates for change by spreading the word about less understood health issues. Underresearched and thus undertreated, with no known cause or too many variables and side effects to treatment, these diseases keep healthcare providers with their hands tied, unable to help patients as much as they want to. 

Dystonia is one of these obscure disorders that affect a small percentage of the population and has researchers desperately looking for answers. Under the slogan “Dystonia Moves Me”, Dystonia Awareness Month tries to raise awareness about common issues dystonia patients report. An estimated 70% of them get initially misdiagnosed and delayed diagnosis often costs them employment, education opportunities and life satisfaction. 

Dystonia is a chronic movement disorder characterised by uncontrollable muscle spasms, involuntary movements and twisting of the body in painful positions. A delay in diagnosis for dystonia patients means delayed treatment – something that can not only render them unemployed but cause a lot of pain and anxiety. 

Although researchers have found a number of genes linked to different types of dystonia, only in a small number of cases the cause is genetic and medical professionals point out that even when a person carries one of those genes, they may never develop symptoms. 

Environmental factors can contribute to the onset but overall, it’s still unclear what causes dystonia. This is never good news in the medical world – a lack of understanding of the underlying reason for the disease means that there is no curative treatment, only therapies to manage the symptoms. 

Available treatments

In the case of dystonia, one of the most popular ways to treat symptoms is Botox injections. Muscle spasms in dystonia appear to be related to a problem in the basal ganglia – the part of the brain where muscle contractions are initiated. Whatever causes the problem in the basal ganglia, it translates into poor communication between nerve cells. The botulinum toxin (Botox) does not affect the basal ganglia – it’s simply injected into the affected muscle or muscle group to prevent contractions.

For many dystonia patients, Botox injections do the trick, they just need to be renewed once every few months. For the rest, however, Botox is no solution at all and in the case of cervical dystonia (a type of dystonia that affects the muscles of the neck), the injections come with the danger of choking. 

Drugs can be used “off-label” to alleviate symptoms but often those drugs are initially approved for other disorders and they can prove to be less effective in dystonia. Although the treatment team might want to try less invasive approaches like physical therapy and stress management, there are still many patients who report no or insignificant improvement after a number of treatment options have been exhausted. In those cases, invasive treatments can be a sort of a last resort. 

Deep brain stimulation

Surgeries are available to disrupt the pathway of miscommunication responsible for the uncontrollable movements and painful positions of the body. Such procedures vary from purposefully damaging carefully selected parts of the brain, to cutting nerves that lead to the spine or removing the nerves at the point they enter the overacting muscles. These surgeries come with their own uniques side effects and are irreversible, so medical professionals might suggest another, less invasive option if dystonia can’t be kept at bay by drugs and Botox injections. 

Deep brain stimulation is a complex procedure that involves implanting small electrodes into specific regions of the brain. These electrodes are connected with wires under the skin to a pacemaker-like battery that is usually implanted either in the chest or the abdomen. The aim of this procedure is for the battery to block the signals causing the muscle spasms by making the electrodes deliver electric currents to either the Globus Pallidus Interna (GPi) or the thalamus. 

The effects of DBS can decrease as the time the patient lives with dystonia increases, so this treatment is best offered a few years after the onset of symptoms. This makes timely diagnosis even more important, especially for children. Because of the risks such a procedure carries – like a stroke, infections and seizures – albeit small as the percentage of patients these risks affect, researchers keep looking for less invasive treatments that can offer the same beneficial results. 

Transcranial magnetic stimulation (TMS) 

Transcranial magnetic stimulation has shown good results in dystonia patients, improving mobility and reducing pain among them. The treatment is non-invasive and painless – a provider holds a magnetic coil over the skull of the patient in order to direct magnetic pulses into the brain. The technique, used in certain cases to treat stroke patients, works by disrupting the miscommunication between the neurones responsible for the muscle spasms. 

TMS is approved for use in depression but its potential to provide dystonia patients with long-term symptom relief without the side effects of most other treatments makes researchers and medical professionals believe it’s a promising new therapy. 

Transcranial magnetic stimulation (TMS) and transcranial electrical stimulation (TES) research has the potential not only to result in a new widely available non-invasive treatment but also to give scientists some answers about the underlying processes that cause dystonia and other neurological disorders. What’s more, it can provide researchers with a deeper understanding of the brain and its inner workings.  

Research into these processes lays down the groundwork for studies like the one that Dr Anne Weissbach received the David Marsden Award this year for. Her paper “Alcohol improves cerebellar learning deficit in myoclonus-dystonia: A clinical and electrophysiological investigation” opens new avenues for treating dystonia. It seems that cerebellar networks play a crucial role in the generation of symptoms in a specific type of dystonia patients and this finding can open the doors for new treatment models. The therapeutic effect of alcohol in these patients appears to be due to alcohol acting as a GABA antagonist, in other words disrupting faulty signals.

For new treatments to reach the patients faster, however, they have to be thoroughly tested in clinical trials. The major reason for unsuccessful clinical trials even when the treatment shows a lot of promise is insufficient enrollment. A vicious circle closes that leaves the most vulnerable patients – those who don’t benefit from available treatments – with fewer options. 

If you want to help researchers find new, better treatments for dystonia, consider joining a clinical trial. As you saw, some of the therapies that make medical professionals hopeful are non-invasive and easy to administer. If you don’t fit the enrollment criteria or you don’t feel like a clinical trial is a good option for you, advocate for more research on dystonia by sharing posts like this one and raising awareness about the disorder.