Dystonia.  Never heard of it? You are not alone. Most people diagnosed with it had never heard of it either. Many family doctors have not heard of it.  Yet it puts a label on the painful muscle contractions, the sustained awkward movements some of us have been having for months or years, the ones that make us look unusual, move in awkward ways, talk oddly or not be able to open our eyes. Dystonia is officially a movement disorder.

It has been defined as a syndrome of sustained muscle contractions, frequently causing twisting and repetitive movements or abnormal postures.

The problem can be very small, just a few fingers that seem to act oddly when you play piano, or an odd thing that happens to your hand when you golf.  It can come and go, it can get worse, or better. It can stabilize but just never go away.

Or it can be massively debilitating. A few people have had it from childhood but many got it only as seniors.

It can involve just one body part, the vocal cords, or the muscles around the eyes, the neck, the fingers, or it can involve several, sometimes the entire trunk. It is scary, unpredictable and for some people very painful.  Yet nobody knows for sure what causes it, or where it is headed.

It is such an odd thing.  It does not seem to affect major organs of digestion or circulation or breathing and it does not reduce life span.  Many people with it are very well medically, except for the muscle thing.

It is odd because there are times when it is suddenly less.  Some people who have trouble speaking because it is in the vocal cords, can still sing. Some people with leg dystonia who have trouble walking, can still run.  It seems to be a problem not with the structure of the body but with messaging between the brain and the muscles.  And the messaging is not just simply from brain to muscle. The muscle sends feedback to the brain and the error may be in that direction. Researchers just don’t know.

It is odd because people with dystonia at first were mistaken for having a psychological problem, a neurosis, and some were shunned and mocked.  When doctors did X rays, CAT scans, MRIs or blood tests the results were often normal. So it has been stigmatized in history as  if patients were faking it.

Recent studies have however confirmed there are brain chemical oddities going on, electrical message oddities along the nerves, and in genetic studies, sometimes abnormalities of the genes. Yet even that is unclear because it looks like injury or childhood illness or medication alone don’t cause it, unless there is also another factor putting the person at risk.  A perfect storm, where two things go wrong at once and then, it happens.

There is so much to figure out and we patients are keen to get to the bottom of it too.

Because it is not well understood it is still often misdiagnosed at first, and estimates of it therefore vary widely.  Researchers lately suspect it is more common than was earlier believed. It is apparently 6 times more prevalent than muscular dystrophy or ALS, which are much better known by the public.  It is not as common as Parkinson’s disease but it still probably affects over 300,000 people in North  America alone, possibly over 6 million worldwide. So it’s rare, but not.

It is odd because it may be a problem with the muscles while your mind is still fine but depending on the muscles, it can really change your day. If it is in the eyes it may change your ability to read, if  in the hands your ability to hold a cup, if in the mouth, your ability to chew, if in the legs, your ability to walk. You are well and yet really struggling to get through the day.

The condition is odd because the treatments being used – pills, injections, surgeries, physical therapy –  have a spotty track record. They work for some people for a while and then not, or they don’t work at all, or in some cases the side effects of treatment are distressing.

It does not hit randomly and is not contagious.  But it cuts across all demographics. It hits church ministers and guitarists, dart players and PhD scientists, school teachers and engineers, baseball players and entertainers.  It hits people at the prime of their careers, people at the end of their careers, and sometimes babies.

This condition mystifies doctors for one other reason.  As we patients jiggle around to try to find a position that is not painful, we often land on one that is truly strange.  We find that if we put our hand against a cheek or jaw or temple or top of the head, suddenly the pain is gone.  This ‘sensory trick’ seems to defy logic and yet it is an experience of many patients.   It is as if nature really has the answer in us, and yet we can’t access it much.

What to do?

Well, endure. That is all we can do. Be patient, in every sense of the word.

But maybe there is something else. Maybe we patients can get together and help with the research.

update September 8, 2021

Thank you to everyone who took part, to those who praised the idea at the start and to those who helped spread the word of the project

Over the one year of the project, to May 4, 2021, the  website was seen in 83 countries, had 15,984 page views and 5,655 individual views. There were 48 short optional surveys, 1344 questions in total, and over half were checklist so in the end over 3,500 questions were asked. 1868 surveys were completed.

The site continued to attract visitors while results were being tabulated. It was seen in 88 countries,  had 17.767 page views and 6.296 individual views.

The results were posted in late August 2021.

They have been assembled  in files of 40 themes. For each theme a summary is given of past research, useful areas of inquiry are identified,  the per question results are presented, and then a  preliminary analysis has been done.  Patients may find it interesting to see how much their own experience parallels that of others.  Researchers hopefully will see patterns and understand them.

These results are now presented  in several formats:

(If there is anything on the website that seems  useful, people are encouraged  to download it since this is a personal website and will not be up indefinitely)

a. There are two summary articles under 3,000 words each. One is about the motor aspects of dystonia and the other is about the nonmotor aspects.

b. Those who wish to study only certain themes can look at individual files on the site. An index is provided. Alternatively it may be useful to search for a given word and find all responses on that topic.

c. a pdf of the full report has been put on the site for download.

By September 7, once results were announced to researchers, the website had 19,167 page views and 6,925 individual views. The entire 622 page study has been downloaded 67 times.

What does this mean? It means that around the world people with a rare condition are able to share with each other what this is like for them, and researchers around the world are able to access and hopefully understand this information.

The Canadian Medical Association Journal has published a patient’s  blog about this project.

Thank you again !