Understanding Dystonia: A Comprehensive Guide
What Is Dystonia?
Dystonia is a movement disorder in which some of your body's muscles contract in ways you can't control. This can cause your body to twist and move in awkward ways.
Dystonia can affect one muscle, a muscle group, or your entire body. Dystonia affects about 1% of the population, and you're more likely to have it if you're assigned female at birth.
Dystonia vs. dyskinesia
Dystonia is sometimes confused with dyskinesia. Dyskinesia is one type of dystonia; it happens when muscles tense up for a longer period, which triggers involuntary movements that might seem jerky.
Dystonia Symptoms
The main symptom of dystonia is uncontrollable muscle movements that can range from very mild to severe. Dystonia can affect different body parts, and often the signs progress through stages. Some early symptoms include:
- A "dragging leg"
- Cramping of your foot
- Involuntary pulling of your neck
- Uncontrollable blinking
- Trouble speaking
- Handwriting that gets worse after you write a few lines
- Tremor
Stress or fatigue may bring on your symptoms or cause them to worsen. You may also have pain and exhaustion because of the constant muscle contractions.
If dystonia symptoms appear in childhood, they usually involve your foot or hand. But then they progress to the rest of the body. After the teen years, though, the symptoms tend to level off.
When dystonia appears in early adulthood, it typically begins in your upper body. Symptoms take a while to progress to the rest of your body.
Dystonia Causes
Most cases of dystonia don't have a specific cause. Dystonia seems to be related to a problem in your basal ganglia, the part of your brain that controls your muscle contractions. The problem involves the way the nerve cells communicate.
Dystonia is divided into three categories: genetic, acquired, and idiopathic.
Genetic dystonia
If you have genetic dystonia, it means that the problem stems from an abnormal gene you inherited. There are several genes that are linked to dystonia, including:
- DYT1. Mutations to this gene cause DYT1 dystonia, a rare form that begins in childhood and affects the arms and legs first. It can cause serious disability.
- DYT3. Changes in this gene have been linked to tremor, muscle stiffness, and slow movements (similar to Parkinson's disease).
- DYT5 mutations may cause dopa-responsive dystonia (DRD), which is also called Segawa’s disease. Symptoms usually start in childhood and tend to worsen after physical activity as well as later in the day. DRD symptoms can often be well-controlled with levodopa (Sinemet), which is also used to treat Parkinson’s disease.
- DYT6 gene changes can cause dystonia in your head, neck, and arms.
- DYT11 mutations cause brief muscle contractions called myoclonus.
- DYT12 genetic issues cause Parkinson’s-like dystonia symptoms that come on quickly.
- DYT28 issues cause dystonia that starts in childhood.