Kristina Simonyan1, Julie Barkmeier-Kraemer2, Andrew Blitzer2, Mark Hallett2, John F Houde2, Teresa Jacobson Kimberley2, Laurie J Ozelius2, Michael J Pitman2, Robert Mark Richardson2, Nutan Sharma2, Kristine Tanner2. 1. From the Department of Otolaryngology-Head and Neck Surgery (K.S.), Harvard Medical School and Massachusetts Eye and Ear, Boston, MA, Department of Neurology (K.S., L.J.O., N.S.), Massachusetts General Hospital, Boston, MA; Division of Otolaryngology (J.B.-K.), University of Utah, Salt Lake City, UT; New York Center for Voice and Swallowing Disorders and Department of Neurology (A.B.), Icahn School of Medicine at Mount Sinai, New York, NY; Human Motor Control Section (M.H.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Otolaryngology-Head and Neck Surgery (J.H.), University of California San Francisco, San Francisco, CA; School of Rehabilitation and Health Sciences (T.J.K.), Massachusetts General Hospital Institute of Health Professions, Boston, MA; Department of Otolaryngology-Head and Neck Surgery (M.J.P.), Columbia University Irving Medical Center, New York, NY; Department of Neurosurgery (R.M.R.), Massachusetts General Hospital, Boston, MA; and Department of Communication Disorders (K.T.), Brigham Young University, Provo, UT. kristina_simonyan@meei.harvard.edu. 2. From the Department of Otolaryngology-Head and Neck Surgery (K.S.), Harvard Medical School and Massachusetts Eye and Ear, Boston, MA, Department of Neurology (K.S., L.J.O., N.S.), Massachusetts General Hospital, Boston, MA; Division of Otolaryngology (J.B.-K.), University of Utah, Salt Lake City, UT; New York Center for Voice and Swallowing Disorders and Department of Neurology (A.B.), Icahn School of Medicine at Mount Sinai, New York, NY; Human Motor Control Section (M.H.), National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Department of Otolaryngology-Head and Neck Surgery (J.H.), University of California San Francisco, San Francisco, CA; School of Rehabilitation and Health Sciences (T.J.K.), Massachusetts General Hospital Institute of Health Professions, Boston, MA; Department of Otolaryngology-Head and Neck Surgery (M.J.P.), Columbia University Irving Medical Center, New York, NY; Department of Neurosurgery (R.M.R.), Massachusetts General Hospital, Boston, MA; and Department of Communication Disorders (K.T.), Brigham Young University, Provo, UT.
Abstract
OBJECTIVE: To delineate research priorities for improving clinical management of laryngeal dystonia, the NIH convened a multidisciplinary panel of experts for a 1-day workshop to examine the current progress in understanding its etiopathophysiology and clinical care. METHODS: The participants reviewed the current terminology of disorder and discussed advances in understanding its pathophysiology since a similar workshop was held in 2005. Clinical and research gaps were identified, and recommendations for future directions were delineated. RESULTS: The panel unanimously agreed to adopt the term "laryngeal dystonia" instead of "spasmodic dysphonia" to reflect the current progress in characterizations of this disorder. Laryngeal dystonia was recognized as a multifactorial, phenotypically heterogeneous form of isolated dystonia. Its etiology remains unknown, whereas the pathophysiology likely involves large-scale functional and structural brain network disorganization. Current challenges include the lack of clinically validated diagnostic markers and outcome measures and the paucity of therapies that address the disorder pathophysiology. CONCLUSION: Research priorities should be guided by challenges in clinical management of laryngeal dystonia. Identification of disorder-specific biomarkers would allow the development of novel diagnostic tools and unified measures of treatment outcome. Elucidation of the critical nodes within neural networks that cause or modulate symptoms would allow the development of targeted therapies that address the underlying pathophysiology. Given the rarity of laryngeal dystonia, future rapid research progress may be facilitated by multicenter, national and international collaborations.
OBJECTIVE: To delineate research priorities for improving clinical management of laryngeal dystonia, the NIH convened a multidisciplinary panel of experts for a 1-day workshop to examine the current progress in understanding its etiopathophysiology and clinical care. METHODS: The participants reviewed the current terminology of disorder and discussed advances in understanding its pathophysiology since a similar workshop was held in 2005. Clinical and research gaps were identified, and recommendations for future directions were delineated. RESULTS: The panel unanimously agreed to adopt the term "laryngeal dystonia" instead of "spasmodic dysphonia" to reflect the current progress in characterizations of this disorder. Laryngeal dystonia was recognized as a multifactorial, phenotypically heterogeneous form of isolated dystonia. Its etiology remains unknown, whereas the pathophysiology likely involves large-scale functional and structural brain network disorganization. Current challenges include the lack of clinically validated diagnostic markers and outcome measures and the paucity of therapies that address the disorder pathophysiology. CONCLUSION: Research priorities should be guided by challenges in clinical management of laryngeal dystonia. Identification of disorder-specific biomarkers would allow the development of novel diagnostic tools and unified measures of treatment outcome. Elucidation of the critical nodes within neural networks that cause or modulate symptoms would allow the development of targeted therapies that address the underlying pathophysiology. Given the rarity of laryngeal dystonia, future rapid research progress may be facilitated by multicenter, national and international collaborations.
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