Sex Differences in Dystonia

Gamze Kilic-Berkmen, Laura M. Scorr, Lucas McKay, Mehreen Thayani, Yuping Donsante, Joel S. Perlmutter, Scott A. Norris, Laura Wright, Christine Klein, Jeanne S. Feuerstein, Abhimanyu Mahajan, Aparna Wagle-Shukla, Irene Malaty, Mark S. LeDoux, Sarah Pirio-Richardson, Alexander Pantelyat, Emile Moukheiber, Samuel Frank, William Ondo, Rachel Saunders-PullmanKatja Lohman, Ellen J. Hess, H. A. Jinnah

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Prior studies have indicated that female individuals outnumber male individuals for certain types of dystonia. Few studies have addressed factors impacting these sex differences or their potential biological mechanisms. Objectives: To evaluate factors underlying sex differences in the dystonias and explore potential mechanisms for these differences. Methods: Data from individuals with various types of dystonia were analyzed in relation to sex. Data came from two different sources. One source was the Dystonia Coalition database, which contains predominantly idiopathic adult-onset focal and segmental dystonias. The second source was the MDSGene database, which contains predominantly early-onset monogenic dystonias. Results: The 3222 individuals from the Dystonia Coalition included 71% female participants and 29% male participants for an overall female-to-male ratio (F:M) of 2.4. This ratio varied according to body region affected and whether dystonia was task-specific. The female predominance was age-dependent. Sex did not have a significant impact on co-existing tremor, geste antagoniste, depression or anxiety. In the 1377 individuals from the MDSGene database, female participants outnumbered male participants for some genes (GNAL, GCH1, and ANO3) but not for other genes (THAP1, TH, and TOR1A). Conclusions: These results are in keeping with prior studies that have indicated female individuals outnumber male individuals for both adult-onset idiopathic and early onset monogenic dystonias. These results extend prior observations by revealing that sex ratios depend on the type of dystonia, age, and underlying genetics.

Original languageEnglish
JournalMovement Disorders Clinical Practice
DOIs
StateAccepted/In press - 2024

Keywords

  • blepharospasm
  • dystonia
  • sex differences
  • spasmodic dysphonia
  • writer's cramp

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