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The Choreoathetotic Movement of Paroxysmal Nonkinesigenic Dyskinesia

To identify the key insights or developments described in this article
1 Credit CME

A 14-year-old adolescent from Northern China was admitted to our hospital with a 10-year history of paroxysmal involuntary movement attacks. This symptom initially was noted at the age of 4 years and slowly progressed over the next 10 years. The stereotypical attack was characterized by choreoathetotic movements of all extremities and twisting of the trunk without loss of consciousness, usually precipitated by stress and fatigue (Video). Attacks occurred 2 to 3 times daily, lasting from several minutes to hours. The family history revealed similar symptoms in his mother, maternal grandmother, and aunt (Figure, A). He was completely healthy after birth and had normal intellectual and physical development. Treatment with carbamazepine and sodium valproate was not of sustained effectiveness.

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Article Information

Corresponding Author: Liankun Ren, MD, PhD, Xuanwu Hospital, Capital Medical University, No. 45 Changchun St, Xicheng District, Beijing 100053, China (renlk2022@outlook.com).

Published Online: August 15, 2022. doi:10.1001/jamaneurol.2022.2268

Conflict of Interest Disclosures: None reported.

Funding/Support: The study was supported by grant 82071454 from the National Natural Science Foundation of China, grant 7202062 from the Natural Science Foundation of Beijing Municipality, grant Z211100002921032 from the Capital Clinical Diagnosis and Treatment Technology Research and Demonstration Application Project in China, and grant 2020-NKX-XM-13 from the Cooperation Project of Chinese Institute for Brain Research, Beijing.

Role of the Funder/Sponsor: The funders had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.

Additional Contributions: We thank Robert S. Fisher, MD, PhD (Department of Neurology, Stanford Neuroscience Health Center), for professional language editing; Lehong Gao, MD, and Wenjing Liu, MM (Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China), for patient care; and Lei Qi, MM, Guangyuan Jin, MM, Xiaopeng Wang, MM, and Di Wu, MM (Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China), for their critical revision of the manuscript. The authors are enormously indebted to the patient who participated in this study. We thank the mother of the patient, grandmother, and aunt for granting permission to publish this information. No compensation was received.

References
1.
Mount  L , Reback  S .  Familial paroxysmal choreoathetosis.   Arch Neurol. 1940;44(4):841-847. doi:10.1001/archneurpsyc.1940.02280100143011Google ScholarCrossref
2.
Gardiner  AR , Jaffer  F , Dale  RC ,  et al.  The clinical and genetic heterogeneity of paroxysmal dyskinesias.   Brain. 2015;138(pt 12):3567-3580. doi:10.1093/brain/awv310 PubMedGoogle ScholarCrossref
3.
Erro  R , Bhatia  KP .  Unravelling of the paroxysmal dyskinesias.   J Neurol Neurosurg Psychiatry. 2019;90(2):227-234. doi:10.1136/jnnp-2018-318932 PubMedGoogle ScholarCrossref
4.
Shen  Y , Lee  HY , Rawson  J ,  et al.  Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability.   Hum Mol Genet. 2011;20(12):2322-2332. doi:10.1093/hmg/ddr125 PubMedGoogle ScholarCrossref
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Credit Designation Statement: The American Medical Association designates this Journal-based CME activity activity for a maximum of 1.00  AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to:

  • 1.00 Medical Knowledge MOC points in the American Board of Internal Medicine's (ABIM) Maintenance of Certification (MOC) program;;
  • 1.00 Self-Assessment points in the American Board of Otolaryngology – Head and Neck Surgery’s (ABOHNS) Continuing Certification program;
  • 1.00 MOC points in the American Board of Pediatrics’ (ABP) Maintenance of Certification (MOC) program;
  • 1.00 Lifelong Learning points in the American Board of Pathology’s (ABPath) Continuing Certification program; and
  • 1.00 CME points in the American Board of Surgery’s (ABS) Continuing Certification program

It is the CME activity provider's responsibility to submit participant completion information to ACCME for the purpose of granting MOC credit.

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