Dystonia Awareness Month

Dystonia

September is Dystonia Awareness Month. Dystonia? Yeah, it’s a real disorder.

When I first started having “problems” in 2019, I went to Google for answers. The story regarding the initial search is detailed below. That search brought up this little-known disorder called dystonia. At first, I thought it was some type of sick joke, but it wasn’t. This is actually a thing.

Dystonia is a rare, neurological/movement disorder that causes excessive, involuntary muscle contractions which result in abnormal muscle movements and body postures. These abnormal movements and postures make it difficult for those with the disorder to control their movements.

The disorder can affect any region of the body (eyelids, face, jaw, neck, vocal cords, torso, limbs, hands, feet). Depending on the part of the body affected, dystonia may look different from person to person.

Movement disorder? What’s that?

Movement disorders are neurological conditions that cause problems with movement. These problems can include increased movements, reduced movements or slow movements.

The most commonly known movement disorder is Parkinson’s. The other two, most common, are essential tremor and you guessed it — the one no one’s heard of before — dystonia.

Myoclonus Dystonia

Myoclonus-Dystonia, a rare form of dystonia, is characterized by a combination of rapid, brief muscle contractions (myoclonus) and/or sustained twisting and repetitive movements that result in abnormal postures (dystonia).

The myoclonus jerks most often affect the neck, trunk, and upper limbs. There are also other features of the disorder that don’t involve movement. These include obsessive compulsive disorder, depression, anxiety, alcohol abuse, and panic attacks.

The alcohol abuse comes in to play because, believe it or not, symptoms go away with alcohol. This ends up leading to abuse.

Myoclonus-Dystonia is a genetic disorder, but symptoms vary among individuals, including within the same family. This includes a fluctuation of symptom severity, episodic escalation of movement symptoms (with or without trigger event), respiratory symptoms, and voice impairment.

My Journey

At the beginning of 2019 (January), my left eyelid began jerking. It wasn’t just a jerk here and there. It was non-stop and lasted three weeks. I came across a few people on a forum for migraines where they stated they had it as a symptom. So, I figured it was my migraines. I was wrong.

By the end of the month, my face was twitching. I thought hemifacial spasm. But then my face “froze”, “got stuck”, appeared “twisted”. Bell’s Palsy? No.

At the beginning of February, my shoulder started jerking. I caught the movement on videotape and showed my neurologist. He looked in my chart and said “Oh, I see you have PTSD. It’s probably anxiety.” I never went back to see him. I’m one of those people who fires doctors when they say dumb stuff like that.

Frustrated, I took it upon myself to figure it out. Turned on the computer, typed my symptoms in Google, and guess what came up — Dystonia. I journeyed over to YouTube and found some videos, but I still wasn’t convinced. My movements were more jerky. Everyone I came across was more “stuck in place”.

I decided to try Instagram. I watched a few videos and then I finally found one that looked similar to what I was dealing with. She had Myoclonus-Dystonia. Unfortunately, it’s rare. That’s right, I have a rare form of a rare disorder.

I’m not one for diagnosing myself, but I knew I had an appointment with my doctor coming up and my body was jerking all over the place. I came across the Dystonia Medical Research Foundation’s website and started doing a little research. That was when I came across their physician finder.

By the time I went to see my doctor, my symptoms had progressed. He walked in the room and said, “Oh no. Why are you moving like that?” I told him what was going on and gave him a piece of paper with a doctor I found online. Without hesitation he made me an appointment.

Now, anyone who’s ever seen a specialist knows it takes a while to get an appointment. Six Months. When I went for my first appointment, I was having mobility issues. I had already fallen multiple times. Struggling with fibromyalgia since 2009, I was already using a cane. But it wasn’t enough. I had to invest in forearm crutches.

The type of doctor I saw (and still see) is a Movement Disorder Specialist. The first appointment she had me do some movements and walk down the hall and then sent me for labs to rule out other disorders. Everything came back fine.

At the second appointment, she diagnosed me with Generalized Dystonia and started me on medication. I’m one of those people who's allergic to everything, so guess what happened? Every time I see a doctor, and they ask me what medications I’m allergic to, by the time I get past medication seven they just stop writing.

The third appointment, she tried me on another medication but told me that she wasn’t satisfied with my diagnosis. She couldn’t figure out why my torso was jerking — writhing was the exact word she used. The fourth appointment, she told me she was sending me to get a second opinion.

He looked at me, watching my movements. He asked me to walk down the hall. When we got back to the room he said, “You have myoclonus-dystonia”. I asked him about the Generalized Dystonia diagnosis and he said, “Your myoclonus-dystonia is generalized”.

The following is a quote from the Dystonia Medical Research Foundation regarding Generalized Dystonia.

Generalized dystonia refers to dystonia that is not limited to a single part of the body but affects multiple muscle groups throughout the body. Generalized dystonia typically affects muscles in the torso and limbs, and sometimes the neck and face. Patients have difficulty moving their bodies freely and controlling their body movements. It is important to note that dystonia does not target vital organs such as the heart.

The part of my body affected by myoclonus includes my neck, shoulders, arms, torso, and legs. The parts affected by dystonia includes my eyes, face, neck, arms, hands, legs, and feet.

Medication — none have worked for me. My saving grace has been Botox. Unfortunately, you can’t get Botox everywhere. The fact that I’m typing this is because of Botox. Every three months, I get injections in my neck and upper back muscles so I can use my arms. Without the injections, my arms cramp every time I move them.

Dystonia is a rare, incurable disorder. I’ll be living with it for the rest of my life. It’s also progressive. The progression is different for everyone. There are some with the disorder who stabilize (their symptoms don’t get any worse).

For more information on dystonia, please visit the Dystonia Medical Research Foundation’s official website.