Victims of rare disorder dystonia need advocates to find cause, cure

Susan Ritter/2019 Olympian Board of Contributors
Susan Ritter/2019 Olympian Board of Contributors sbloom@theolympian.com

Chances are you have never heard of dystonia because it is a rare disorder. Yet here, just in the Puget Sound area, there are probably 80 to 100 people who suffer regularly — often silently — from dystonia.

What is it and why is it important? Dystonia is a neurological movement disorder that causes intense, involuntary muscle contractions. It is the third most common movement disorder after essential tremor and Parkinson’s disease. Dystonia may be genetic or result from other health conditions such as stroke, physical trauma, other diseases, or as a side effect of certain medications, but it is usually not determinable.

There are treatments to manage the involuntary movements, but there is no cure. Dystonia symptoms can include abnormal head and neck movements, excessive blinking, a breathy or strangled-sounding voice, hand cramps, or a twisted foot or feet. Dystonia can affect a specific part of the body or muscles all over the body. Dystonia occurs when the nervous system is overwhelmed by chaotic signals, causing muscles to contract involuntarily.

Approximately 300,000 people in the United States have been diagnosed with some form of dystonia, and many have yet to be diagnosed.

“Individuals often suffer years without proper treatment, and this can have devastating effects on employment, schooling, and overall quality of life,” says Art Kessler, president of the Dystonia Medical Research Foundation (DMRF). “Delayed diagnosis also prevents people from having access to the information they need to make informed treatment decisions and peer support from others who understand the challenges of living with dystonia.” Sometimes it takes years to get the correct diagnosis.

Why am I telling you about a rare disorder that many of you have never heard of? It is a personal story and I want people to know it can be severe, painful, and debilitating and in extreme cases, children and adults must use wheelchairs, and are housebound and isolated. The muscle contractions involved in cervical dystonia can cause your head to twist in a variety of directions. Patients are often frozen in that position, unable to walk or work.

A close relative of mine was diagnosed with cervical dystonia 10 years ago. It developed slowly with sore shoulders, and then two or three months later, his chin turned towards his left shoulder and he could not turn it back. A “sensory trick,” touching his cheek with the index finger, helped him straighten out his head, but it would turn back when he dropped the finger. After trips to the family doctor, and a pain specialist, he was told to find a neurologist with a specialty in dystonia. Online he located a neurologist from Puget Sound, Dr. Patrick Hogan.

No one has determined why this relative developed dystonia as it is generally idiopathic (of unknown origin). However, he is personally convinced that it was probably due to physical trauma from a diving accident in the 1980s, which would also explain why his dystonia is cervical.

Every 120 days he has a treatment of electromyography (EMG) with injections of Botox or a synthetic Botox. The EMG is a machine that locates the area of the specific tight muscle, and the Botox is injected at that site to release the tension of the muscle. He will have upwards of 14 shots to his neck and right shoulder at any given treatment. He can feel the loosening of these muscles within a few days and the treatment can last up to three months.

Cervical dystonia affects women twice as often as men. It affects people of any age but usually appears between the ages of 40 and 60 years old. And it affects people of all ethnic backgrounds.

Because dystonia is relatively unknown, symptoms are often mistaken for psychiatric disturbance, substance abuse, or poor social skills. A prompt correct diagnosis is critical because research indicates that treatment may be more successful when symptoms are treated early. Dystonia is not a fatal condition and does not affect vital organs, but it is painful and physically debilitating.

The Dystonia Medical Research Foundation (DMRF) is mobilizing volunteers across the country throughout September to promote awareness. Information is available at www.dystonia-foundation.org/dystonia-moves-me.

If you or someone you know has symptoms, go online for support resources. View the YouTube videos of those who have dystonia. You will be saddened by the lives they are living. Dancers who can no longer dance, musicians unable to play, as well as many others whose lives have been turned upside down. The good news is that many sufferers are overcoming the symptoms with injections, deep brain stimulation and medications.

At a recent support group in Tacoma, the topic was the use of CBD lotions to alleviate pain and tension from the muscles contorting or spasming. Recent works shows that CBD is effective in alleviating some symptoms.

There is no famous person advocating for research and treatment, so those with dystonia need you to become an advocate. For more information, the Dystonia Medical Research Foundation can be reached at www.dystonia-foundation.org and 800-377-DYST (3978).