The dystonias are quite heterogeneous, both clinically and etiologically. Not surprisingly, the many different subtypes of dystonia respond differently to various treatments. There are some special populations of patients who respond remarkably well to very specific therapies. Although these patients are rare, they should not be overlooked because treatment can be life saving. For the more common focal and segmental dystonias, BTX is the treatment of choice. It can be combined effectively with oral medications. BTX may also be used to address the most troublesome features in patients who have a broader distribution of dystonia, such as in the generalized dystonias. For most generalized dystonias, empirical trials with several oral agents can sometimes provide at least partial relief of symptoms. When medical therapy seems inadequate, surgery is an option. The successful experiences with DBS in generalized dystonias have led to their increasing popularity and extension to medically refractory segmental and focal dystonias too. Although we do not yet have a definitive cure, careful selection of the right combinations of treatments can result in a substantially improved quality of life for most patients.
While many treatment options exist, most of them focus on symptom control and are not curative. In order to develop more definitive cures, we must devote future efforts towards developing a better understanding of the neural processes underlying dystonia. Recent progress in both basic and clinical research has dramatically increased our understanding of the pathogenesis of dystonia at the genetic, biochemical, anatomical and physiological levels. We are just now beginning to see some common biological themes, which may help provide insights into the processes that can serve as targets for the rational design of novel interventions in specific subgroups of dystonia. There also has been substantial progress in the development of preclinical experimental models in which promising new therapies can be explored. Eventually, understanding the biological processes and preclinical studies must be translated into clinical application. Developing appropriate tools and methods for testing new treatments is an essential part of this process.
H. A. Jinnah, MD PhD
Emory University School of Medicine
Atlanta, GA 30307