Segmental and Multifocal Isolated Dystonias: Similarities and Differences

Hyder A Jinnah¹, Vittorio Velucci², Daniele Belvisi^{3

4}, Gamze Kilic-Berkmen¹, Joel S Perlmutter⁵, Laura J Wright⁶, Christine Klein⁷, Jeanne S Feuerstein^{8

9}, Steven Bellows¹⁰, Joseph Jankovic¹⁰, Cynthia Comella¹¹, Richard L Barbano¹², Aparna Wagle Shukla¹³, Stephen G Reich¹⁴, Mark S LeDoux¹⁵, Alberto J Espay¹⁶, Kevin R Duque¹⁶, Florence C F Chang^{17

18}, Victor S C Fung^{17

18}, Sarah Pirio-Richardson¹⁹, Carmen Terranova²⁰, Emile S Moukheiber²¹, Sarah Idrissi²², Barbara Vitucci², Susan H Fox²³, Samuel Frank²⁴, Natividad Stover²⁵, Brian D Berman²⁶, Rachel Saunders-Pullman^{27

28}, William G Ondo²⁹, Christopher L Groth³⁰, Marcello Esposito³¹, Laura Avanzino^{32

33}, Francesco Bono³⁴, Roberto Erro³⁵, Marcello Mario Mascia³⁶, Antonella Muroni³⁶, Alfredo Berardelli^{3

4}, Giovanni Defazio^{2

4}

Affiliations

¹ Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA.
² Department of Translational Biomedicine and Neuroscience, University of Bari Aldo Moro, Bari, Italy.
³ Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.
⁴ IRCCS Neuromed Institute, Pozzilli, Italy.
⁵ Department of Neurology, Radiology, Neuroscience, Physical Therapy and Occupational Therapy, Washington University School of Medicine, St. Louis, Missouri, USA.
⁶ Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.
⁷ Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.
⁸ Department of Neurology, University of Colorado School of Medicine, Aurora, Colorado, USA.
⁹ Department of Neurology, Rocky Mountain Regional VA Medical Center, Aurora, Colorado, USA.
¹⁰ Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas, USA.
¹¹ Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois, USA.
¹² Department of Neurology, University of Rochester, Rochester, New York, USA.
¹³ Department of Neurology, Norman Fixel Institute for Neurological Diseases, University of Florida, Gainesville, Florida, USA.
¹⁴ Department of Neurology, University of Maryland School of Medicine, Baltimore, Maryland, USA.
¹⁵ Veracity Neuroscience, Memphis, Tennessee, USA.
¹⁶ James J. and Joan A. Gardner Family Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, Cincinnati, Ohio, USA.
¹⁷ Movement Disorders Unit, Department of Neurology, Westmead Hospital, Sydney, New South Wales, Australia.
¹⁸ Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
¹⁹ Department of Neurology, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA.
²⁰ Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
²¹ Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
²² Neurology Unit, "Dimiccoli" General Hospital, Barletta, Italy.
²³ Division of Neurology, University of Toronto, Toronto, Ontario, Canada.
²⁴ Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.
²⁵ Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA.
²⁶ VCU Parkinson's and Movement Disorders Center, Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA.
²⁷ Department of Neurology, Mount Sinai Beth Israel Medical Center, New York, New York, USA.
²⁸ Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
²⁹ Department of Neurology, Houston Methodist Neurological Institute, Houston, Texas, USA.
³⁰ Department of Neurology, University of Iowa, Iowa City, Iowa, USA.
³¹ Clinical Neurophysiology Unit, Antonio Cardarelli Hospital, Naples, Italy.
³² Department of Experimental Medicine, Section of Human Physiology, University of Genoa, Genoa, Italy.
³³ IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
³⁴ Center for Botulinum Toxin Therapy, Neurologic Unit, Mater Domini University Hospital, Catanzaro, Italy.
³⁵ Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", University of Salerno, Salerno, Italy.
³⁶ Neurology Unit, University Hospital of Cagliari, Cagliari, Italy.

PMID: 41074569
DOI: 10.1002/mdc3.70390

Segmental and Multifocal Isolated Dystonias: Similarities and Differences

Hyder A Jinnah et al. Mov Disord Clin Pract. 2025.

. 2025 Oct 11.

doi: 10.1002/mdc3.70390. Online ahead of print.

Authors

Affiliations

¹ Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA.
² Department of Translational Biomedicine and Neuroscience, University of Bari Aldo Moro, Bari, Italy.
³ Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy.
⁴ IRCCS Neuromed Institute, Pozzilli, Italy.
⁵ Department of Neurology, Radiology, Neuroscience, Physical Therapy and Occupational Therapy, Washington University School of Medicine, St. Louis, Missouri, USA.
⁶ Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.
⁷ Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.
⁸ Department of Neurology, University of Colorado School of Medicine, Aurora, Colorado, USA.
⁹ Department of Neurology, Rocky Mountain Regional VA Medical Center, Aurora, Colorado, USA.
¹⁰ Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas, USA.
¹¹ Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois, USA.
¹² Department of Neurology, University of Rochester, Rochester, New York, USA.
¹³ Department of Neurology, Norman Fixel Institute for Neurological Diseases, University of Florida, Gainesville, Florida, USA.
¹⁴ Department of Neurology, University of Maryland School of Medicine, Baltimore, Maryland, USA.
¹⁵ Veracity Neuroscience, Memphis, Tennessee, USA.
¹⁶ James J. and Joan A. Gardner Family Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, Cincinnati, Ohio, USA.
¹⁷ Movement Disorders Unit, Department of Neurology, Westmead Hospital, Sydney, New South Wales, Australia.
¹⁸ Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
¹⁹ Department of Neurology, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA.
²⁰ Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
²¹ Department of Neurology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
²² Neurology Unit, "Dimiccoli" General Hospital, Barletta, Italy.
²³ Division of Neurology, University of Toronto, Toronto, Ontario, Canada.
²⁴ Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.
²⁵ Department of Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA.
²⁶ VCU Parkinson's and Movement Disorders Center, Virginia Commonwealth University School of Medicine, Richmond, Virginia, USA.
²⁷ Department of Neurology, Mount Sinai Beth Israel Medical Center, New York, New York, USA.
²⁸ Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
²⁹ Department of Neurology, Houston Methodist Neurological Institute, Houston, Texas, USA.
³⁰ Department of Neurology, University of Iowa, Iowa City, Iowa, USA.
³¹ Clinical Neurophysiology Unit, Antonio Cardarelli Hospital, Naples, Italy.
³² Department of Experimental Medicine, Section of Human Physiology, University of Genoa, Genoa, Italy.
³³ IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
³⁴ Center for Botulinum Toxin Therapy, Neurologic Unit, Mater Domini University Hospital, Catanzaro, Italy.
³⁵ Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", University of Salerno, Salerno, Italy.
³⁶ Neurology Unit, University Hospital of Cagliari, Cagliari, Italy.

PMID: 41074569
DOI: 10.1002/mdc3.70390

Abstract

Background: Whether the traditional distinction between segmental and multifocal dystonia is clinically or scientifically useful remains unclear.

Objective: To evaluate whether idiopathic isolated adult-onset segmental and multifocal dystonia can be differentiated based on clinical features other than the contiguity of affected body regions.

Methods: We compared data on segmental and multifocal dystonia from two large dystonia databases established in the USA and Italy that used similar criteria for patient recruitment and assessment.

Results: Compared to segmental dystonia, multifocal dystonia was characterized by a higher proportion of men, a younger age at dystonia onset, a greater frequency of upper limb dystonia, and a lower frequency of cranial dystonia at both onset and last examination. Segmental and multifocal dystonia had a similar frequency of alleviating maneuvers, non-motor eye symptoms in blepharospasm, and neck pain and tremor in cervical dystonia. Although the initial spread pattern from focal to segmental or multifocal appeared faster in the segmental dystonia group, adjusting the analysis for the initial body site involved revealed no significant differences between the two groups. Segmental and multifocal dystonia starting in the same body site showed similar age, sex, and spread characteristics. The observed differences and similarities were consistent across both independent databases.

Conclusions: Segmental and multifocal dystonia share differences and similarities. The observed differences may reflect a difference in the predominant site of dystonia onset. From a clinical perspective, therefore, the segmental/multifocal distinction is probably not valuable in the dystonia classification scheme, although further data may be needed from a pathophysiological perspective.

Keywords: adult‐onset dystonia; idiopathic dystonia; isolated dystonia; multifocal dystonia; segmental dystonia.

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References

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Segmental and Multifocal Isolated Dystonias: Similarities and Differences

Affiliations

Segmental and Multifocal Isolated Dystonias: Similarities and Differences

Authors

Affiliations

Abstract

References

LinkOut - more resources

Full Text Sources