Learning, Coping, Living

I have dystonia, a neurological disorder believed to be a malfunction in the basal ganglia of the brain.

Most laymen have never heard of dystonia. People I haven’t seen in awhile ask, "What is wrong?" They may see me with tremors or with my neck bent over or any one of several symptoms. Often, I tire of the questions. However, I am aware of the need to help educate the public and heath care workers as well. So I answer. It has been so frustrating to find that most health professionals are unfamiliar with dystonia. Many practicing physicians are not familiar with dystonia. They never learned about it in medical school. Yet it is ranked in occurrence just under Parkinson's disease, but over Lou Gehrigs disease. There are over 300,000 people with dystonia living in North America.

There are different classifications for dystonia: focal, segmental, multifocal or general. Focal dystonia affects a single part of the body such as eyes, face, neck, arm, or vocal cords. Segmental dystonia involves a larger contiguous body area such as neck and arm. Multi-focal dystonia affects several noncontiguous parts of the body like eyes, hand and vocal cords. Finally, generalized dystonia, the most severe type, involves the entire body. There are different degrees within each of these areas, and no two patients have exactly the same symptoms.

Recently, the gene DYT1 that carries a predisposition for dystonia was discovered. Of course, this new finding gives us hope for future generations as research investigations have opened up. Meanwhile, many medications to help control symptoms are being used. Botox, a significantly weakened form of the botulism virus, is presently the most effective treatment and the most popular. The Botox serum temporarily controls tremors and twisting. An electromyographic (EMG) guided Botox A serum is injected into the active muscles. These injections temporarily relax the hyperactive muscles. But these injections cannot be given more frequently than every three months because patients can become immune to the Botox A. An exciting development – a new Botox B serum (trade name MyoBlock) – has been approved by the FDA for treating patients who eventually have the immunity problem.

In my youth I often experienced dizziness and poor balance. I frequently fell without reason. The doctors I saw thought I had inner ear problems. When I kept returning to their office, the doctors eventually thought I was imagining my symptoms.

Additionally, the muscles in my eyes were affected, and I found I required a great deal of sleep. My parents constantly admonished me, accusing me of laziness and clumsiness.

Fourteen years ago I was told that I probably had multiple sclerosis. Seven years ago, when I was 58, I was finally correctly diagnosed with spasmodic torticollis (cervical dystonia), blepharospasm a closing of the eyelid, and generalized dystonia.