Living with Dystonia means a constant struggle with uncontrollable muscle spasms that can result in extreme body twisting, abnormal postures and repetitive motions. The specific effects differ from person to person, but the reality of Dystonia is the painful and compromising contracting of one’s muscles.
Dystonia symptoms can range from mild to severe, often progressing through stages, typically affecting one or two body parts (often the legs) and spreading to other parts of the body later on. Early symptoms include a “dragging leg,” foot cramps, involuntary pulling of the neck, uncontrollable blinking, and speech difficulties, with later symptoms including more severe and consistent muscle spasms, abnormal postures and extreme body twisting. People with Dystonia often share that they are in pain or exhausted by the constant muscle contractions.
Currently, no single test can confirm a Dystonia diagnosis. Instead, the diagnosis is dependent on a physician’s ability to observe the symptoms and match them to a thorough patient history. Dystonia affects more people than Muscular Dystrophy, Huntington’s Disease, and Lou Gehrig’s Disease combined, and it touches people of every race, ethnic group, and age — one-third of Dystonia patients are children.
While there are no medications to prevent or slow the progression of Dystonia, the gene and protein responsible have been discovered, which means we are closer than ever to even better treatment options. In the meantime, therapeutic and medication treatments exist to ease some of the symptoms of the disease.
An injection of this chemical into affected muscles prevent muscle contractions. This will provide temporary improvement in abnormal postures and movements characterized by Dystonia. The injection takes effect a few days after it is administered and can last several months before needing to be repeated.
This medication blocks the effects of the neurotransmitter acetylcholine and can reduce the effects of some Dystonia symptoms like muscle spasms. Be aware however that these medications can be sedating or cause issues with memory, along with other side effects that may limit the usefulness of the medication.
These medications act on the dopamine system and help to control muscle movement. Side effects include weight gain and involuntary and repetitive muscle movement, which can restrict the use of the medications.
Deep Brain Stimulation (DBS)
If medications do not sufficiently alleviate symptoms or the side effects are too severe, this treatment may be recommended by a doctor. DBS involves implanting small electrodes connected to a pulse generator into specific brain regions that control movement. Controlled amounts of electricity are then sent into the exact region of the brain that generates the dystonic symptoms and blocks electrical signals that cause the symptoms.
Physical and Other Therapies
Physical therapies and methods to reduce the pain or severity of Dystonia symptoms can offer ongoing relief. The use of splints may help to correct posture and twisting, and stress management and counseling may relieve any mental stresses that accompany Dystonia and its symptoms. Speech and/or voice therapy is another option for those with spasmodic symptoms.
What’s Next for Treatment?
With the ultimate goal of finding the cause of Dystonia, scientists and doctors hope to discover solutions for prevention and the development of a treatment. The discovery of the gene and protein responsible for causing Dystonia will serve as the foundation for future breakthroughs.
The third most common movement disorder after Parkinson’s Disease and Tremor, Dystonia receives very little awareness or funding — which limits the potential of treatment research.
Tyler’s Hope for a Dystonia Cure is trying to change that. This nonprofit, founded in 2005 by Rick and Michelle Staab after their son was diagnosed with Dystonia, has a goal of funding research to raise awareness and ultimately prevent and cure this disease. Since Tyler’s diagnosis in 2005, the Staab’s middle child Samantha was also diagnosed with Dystonia, and both children have undergone Deep Brain Stimulation surgery alongside other treatments in an attempt to alleviate their symptoms.
Through event fundraisers and campaigning, Tyler’s Hope funds Dystonia’s best researchers and most promising projects, as well as bringing researchers together annually for the Dystonia’s only think tank summit.