In March, I started having symptoms of what turned out to be a neurological movement disorder called cervical dystonia.
What is cervical dystonia? (I wondered this too)
Dystonias are involuntary muscle spasms. Your brain sends the wrong message to a muscle telling it to contract when you don't really want it to. These can occur in all kinds of different ways. For example writer's cramp, golfer's 'yips' and dysphonia (muscle spasms of the vocal chords) are all dystonias. Eye twitches are also dystonias. You can have a generalized dystonia, where spasms happen all over the body, or a focal dystonia that only occurs in one area (like eye twitch). The most common type of dystonia is of the neck (called cervical dystonia). This is the type that I have.
Scientists really don't understand what causes dystonia. There is a type of generalized dystonia that children get that has been studied better than most, and all they really know about that one is the gene that is involved. In other types of dystonias, it seems there is a problem with neurotransmitters that are important for motor control (e.g. dopamine). But, many different genetic mutations can lead to dystonia and only about 25% of these are even known - so there is still a lot that we don't know. What does seem clear is that in people with dystonia, there is a disconnection between the brain and the nerves in the muscles that the brain is trying to control. What is really weird about dystonia is that in some patients the symptoms can go away (about 10-20%), and the patient can go into remission - but most patients that go into remission will eventually 'relapse' and have the dystonia reoccur (and not always in the same place or same way). This suggests that sometimes the brain or body can find a way around the issue that causes the dystonia, at least temporarily. Dystonias are not typically progressive (although they have been known to 'spread' from one site to another in some patients) and have no effect on cognitive function or lifespan.
Even though it is the third most common movement disorder (behind Parkinson's and essential tremor), almost no one has heard of dystonia. This is too bad because that means it often gets misdiagnosed, and misdiagnosing a dystonia can lead to a LOT of unnecessary emotional and physical trauma. People have been told they're crazy or lazy, they have had surgery that actually made the problems worse, they have spent thousands upon thousands of dollars seeking out medical help from the wrong specialists (yes, even doctors often don't recognize dystonias!), and on and on. The average person with dystonia goes to 7 doctors which takes over a year before they get the correct diagnosis. I had to go to only 4, and was diagnosed in about 2 months.
Like many chronic illnesses, dystonias can manifest in as many ways as people that have them. Cervical dystonia is no exception. Cervical dystonia is when muscles in your neck contract and your head is pulled to one side, up or down, or some combination of these. Every person is different in the direction their head is turned and how their symptoms appear. It can be a constant pull or a pulling-jerk or happen with or without a tremor. Some people have just a tremor and no pull. It can also be a VERY obvious deviation of the head (or tremor, or both) or it can be totally hidden (just something the patient feels). It can be off and on, or constant. Mine is a constant pull with some jerking (no tremor), with a deviation of the head that is 10 degree tilted to the left (ear to shoulder), 10 degree turned to the right and a moderate 'retrocollis' (looking up). In the next post I'll tell the story of how my symptoms started, my diagnosis and treatment so far.
The muscle contractions caused by dystonias can be very, very severe. Even if the symptoms aren't visible to others, it can cause an immense amount of pain and suffering. It can be exhausting, horrifically damaging to the body (after just 3 months untreated, permanent damage can occur to the spine), causing pinched nerves, broken teeth and bones, herniated discs, misalignments of the jaw and asymmetries of the face and body. Below is a before-dystonia and after-dystonia (before treatment) picture of a person named Rogers Hartmann who developed cervical dystonia in her 30s (like me) which caused her head to pull so hard her body was bent completely over. Rogers, like many of us dystonias, lost a lot of weight after her symptoms started - this is common due to all the calories burned by the muscles spasms (and difficulty with eating). When untreated, I do not look quite this bad, but my body does get pulled something like the picture shown. As you can imagine, it makes it really difficult and tiring to do simple tasks like getting a drink of water, brushing your hair and showering.
Dystonias are treatable but not curable. Focal dystonias can be treated with Botox, which temporarily blocks the nerve from sending constant signals to the spasming muscles. However Botox treatment can be tricky because the dose and location of injections must be optimized - it takes an experienced doctor to get it right and often several attempts before it's really effective. And some dystonias are better treated with Botox than others. There are some oral medications that help, but these often have side effects and it can take a while to find the best one for each patient. Other options are denervation surgery, where the nerves are cut (this is permanent, but when it helps it can be really helpful). The most recent, and maybe most promising treatment is deep brain stimulation, where electrodes are put into the brain through surgery and send pulses to the parts of the brain that are malfunctioning (using a pace-maker type device). It can take up to a year to optimize the frequency and strength of the pulses to minimize symptoms, and there are still some issues with the surgery itself and maintenance of the system, but it does often help especially in those cases where Botox and other methods fail. What we really need to improve treatment is a better understanding of the cause so that we could target and 'fix' the root of the problem, but unfortunately we are still a long ways from this. But the past 20 years has been revolutionary in terms of treatment options and there is a lot of hope that we will continue to improve those treatments and develop new ones, and find the right thing for each patient faster so all dystonians have a better chance at a good quality life. So if you are reading this and you have cervical dystonia or any kind of dystonia please stay positive and keep working to find something that helps you, because there are a lot of things you can try and a lot of resources on how to be an advocate for yourself to find the best outcome.