Research Priorities in Limb and Task-Specific Dystonias

Frontiers in Neurology

H. A. Jinnah²  Teresa J. Kimberley³  Cecília N. Prudente³  Codrin Lungu⁴  Joel S. Perlmutter⁹  Mark Hallett^1,10  Joseph Jankovic^1,11  Sarah Pirio Richardson^1,13  Robert Chen^1,14  Ron L. Alterman^1,15  Katharine Alter^1,16  Eckart Altenmüller^1,17  Shinichi Furuya^1,18  Steven Frucht^1,19 

[1] 0Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA;1Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA;2Department of Rehabilitation Medicine, Division of Physical Therapy and Rehabilitation Science, University of Minnesota, Minneapolis, MN, USA;3Division of Clinical Research, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA;4Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA;5Department of Radiology, Washington University School of Medicine, St. Louis, MO, USA;6Department of Neurosciences, Washington University School of Medicine, St. Louis, MO, USA;7Department of Physical Therapy, Washington University School of Medicine, St. Louis, MO, USA;8Department of Occupational Therapy, Washington University School of Medicine, St. Louis, MO, USA;9Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA;Department of Neurology, Baylor College of Medicine, Houston, TX, USA;Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA;Department of Neurology, University of New Mexico Health Sciences Center, Albuquerque, NM, USA;Division of Neurology, Department of Medicine (Neurology), Krembil Research Institute, University of Toronto, Toronto, ON, Canada;Division of Neurosurgery, Beth Israel Deaconess Medical Center, Boston, MA, USA;Functional and Applied Biomechanics Section, Rehabilitation Medicine, National Institute of Child Health and Development, National Institutes of Health, Bethesda, MD, USA;Institute for Music Physiology and Musicians’ Medicine (IMMM), Hannover University of Music, Drama and Media, Hannover, Germany;Musical Skill and Injury Center (MuSIC), Sophia University, Tokyo, Japan;Robert and John M. Bendheim Parkinson and Movement Disorders Center, Mount Sinai Hospital, New York, NY, USA;

关键词: dystonia;    limb;    task-specific;    research priorities;    inhibition;    deep brain stimulation;   

DOI  :  10.3389/fneur.2017.00170

来源: DOAJ

【 摘 要 】

Dystonia, which causes intermittent or sustained abnormal postures and movements, can present in a focal or a generalized manner. In the limbs, focal dystonia can occur in either the upper or lower limbs and may be task-specific causing abnormal motor performance for only a specific task, such as in writer’s cramp, runner’s dystonia, or musician’s dystonia. Focal limb dystonia can be non-task-specific and may, in some circumstances, be associated with parkinsonian disorders. The true prevalence of focal limb dystonia is not known and is likely currently underestimated, leaving a knowledge gap and an opportunity for future research. The pathophysiology of focal limb dystonia shares some commonalities with other dystonias with a loss of inhibition in the central nervous system and a loss of the normal regulation of plasticity, called homeostatic plasticity. Functional imaging studies revealed abnormalities in several anatomical networks that involve the cortex, basal ganglia, and cerebellum. Further studies should focus on distinguishing cause from effect in both physiology and imaging studies to permit focus on most relevant biological correlates of dystonia. There is no specific therapy for the treatment of limb dystonia given the variability in presentation, but off-label botulinum toxin therapy is often applied to focal limb and task-specific dystonia. Various rehabilitation techniques have been applied and rehabilitation interventions may improve outcomes, but small sample size and lack of direct comparisons between methods to evaluate comparative efficacy limit conclusions. Finally, non-invasive and invasive therapeutic modalities have been explored in small studies with design limitations that do not yet clearly provide direction for larger clinical trials that could support new clinical therapies. Given these gaps in our clinical, pathophysiologic, and therapeutic knowledge, we have identified priorities for future research including: the development of diagnostic criteria for limb dystonia, more precise phenotypic characterization and innovative clinical trial design that considers clinical heterogeneity, and limited available number of participants.

【 授权许可】

Unknown