Looking Forward to 2017

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ONE OF THE MORE COMMON COMPLAINTS that I hear is that there is nothing happening in dystonia.  It is a complaint that I can understand.  It is hard to appreciate all the different aspects of healthcare that ultimately will make its way into your particular treatment.  Healthcare is forever in flux and the constant changing environment makes it difficult to navigate what may ultimately end up in your doctor’s office.  I thought that I would take a few moments and discuss where some potential treatments may come from in the future.

Back in the days before Obamacare and even mangled health care (HMO’s, PPO’s, ACO’s, abc’s and xyz’s), there was a time where physicians had the freedom to do a little more to help a patient’s situation.  Many physicians would offer services to a free clinic or perform some little bit of research because it was a way to give back to the community.  Now since we have been regulated to death, those types of efforts are no longer wanted and actively discouraged because it screws up some bean counter’s balance sheet.  Hopefully, some of these physician charities will no longer be penalized for just doing the right thing.  With that hope, perhaps the next big break in the dystonia story will come not from a big corporation or drug conglomerate, but some little guy (person) just working on a little piece of the dystonia puzzle.

Imaging

There are at least two new imaging techniques that are not part of the usual repertoire of most practicing physicians that show some potential for enlightenment in movement disorders.  These include the diffusion tensor imaging (DTI-MRI) which was demonstrated at last year’s (2015) symposium and which has the potential to demonstrate aberrant pathways that may be responsible for some of the anatomical variations in dystonic patients.  Those differences are not appreciable on looking at general pathology of tissue samples.  Most of the time, even with the most severe torticollis patients’ who were kind enough to donate their brains to science, there is no discernable differences between one side and the other that can be determined by looking either at gross anatomy sections or under a microscope.

Another type of imaging, functional MRI imaging, will potentially help with further localizations of identifying dystonic pathology.  In this particular type of test, a person is asked to perform a particular activity, e.g. raising your right arm.  A particular “tagged” compound is given in an intravenous line at the same time an MRI is performed.  The “tagged” compound finds its way to the active portion of the brain controlling the activity and is highlighted in the MRI.  In this fashion, both anatomy and physiology complement each other.  A portion of the brain or pathway can then be identified and become the subject of further study.

Biochemistry

There continues to be at least some interest in the molecules of Torsion A, a particular protein that is found in worms that causes them to twist and burrow to either the Left or Right.  There is continued interest in this protein; however, how those developments will eventually translate into helping with treatments in a clinic remains to be seen.

However, a great deal more along the lines of the biochemistry angle are the several new genetic abnormalities each year that have been identified.  Each year several more genes have been identified with dystonia at least as a component of a more generalized movement disorder.  Many of these affected families are then looked at for the pattern of genetic inheritance and what proteins or chemical substances they have in common or share that can further shed light on this very difficult to understand disease.

Neurophysiology

A traditional test used by many a neurologist is the standard EEG or electroencephalogram.  This has been predominantly a mainstay for studying various seizure and epileptic states.  However, some researchers have been able to use this physiologic study correlating it with the various anatomical studies.  Recently a publication discussed using an EEG study with some digital techniques called quantitative EEG to study movement disorders.  I particularly like this area of research because with just a few modifications, we can perform this type of testing in my local neurophysiologic laboratory.  Lately there have been a couple of papers published that returned to using older studies like EMG to attempt to give a better understanding of several different movement disorders.

Paradigm Shift

Finally, something that we have alluded to now has some studies to help back them up.  We have always compared dystonia to another disorder such as Parkinson’s disease.  Parkinson’s disease is well studied and has some particular pathology which is easy to spot at autopsy.  Dystonia does not have those simple criteria.  If an executive director was kind enough to donate his brain whether using it or not, there are no observable differences between the two sides.   In a similar movement disorder known as chorea, several authors have suggested that this disorder is a “network” disorder.  In other words, the individual parts, when isolated are normal enough.  However, when you put them together they do not always play nice together in playground and can act up.  This certainly fits with much of what is known about dystonia.  The individual neurons and structure seem to behave when isolated.  However, when put together in a closed environment some of them may become bullies and push the movement disorder forward.  In a clinical sense, this may be at the heart of neuroplasticity which is to get the bullies to behave.  And subsequently attempt to restore a balance that was once there, i.e. be normal once again.

My mom and I wanted to thank you for hosting such a great symposium this year. This was our third year and we are looking forward to next years. E. Mathews