ADCY5-related dyskinesia: a case report

Shih Ying Chen; Chen Jui Ho; Yan Ting Lu; Chih Hsiang Lin; Meng Han Tsai

doi:10.1186/s42466-022-00204-w

ADCY5-related dyskinesia: a case report

Shih Ying Chen, Chen Jui Ho, Yan Ting Lu, Chih Hsiang Lin, Meng Han Tsai^*

^*Corresponding author for this work

Research output: Contribution to journal › Journal Letter › peer-review

2 Scopus citations

Abstract

Adenylyl cyclase 5 (ADCY5) related dyskinesia is a rare disorder characterized by early-onset paroxysmal choreoathetosis, dystonia, myoclonus, or a combination of the above, which primarily involved the limbs, face, and neck. Other common clinical features are axial hypotonia and episodic exacerbation of dyskinesia. Both sporadic and inherited cases have been reported and the predomiant mode of inheritance is autosomal dominant. Herein, we describe the first ADCY5-related dyskinesia patient in Taiwan.

Original language	English
Article number	39
Journal	Neurological Research and Practice
Volume	4
Issue number	1
DOIs	https://doi.org/10.1186/s42466-022-00204-w
State	Published - 12 2022
Externally published	Yes

Bibliographical note

Publisher Copyright:
© 2022, The Author(s).

Keywords

ADCY5
Chorea
Dyskinesia
Dystonia
Whole exome sequencing

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10.1186/s42466-022-00204-w

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title = "ADCY5-related dyskinesia: a case report",

abstract = "Adenylyl cyclase 5 (ADCY5) related dyskinesia is a rare disorder characterized by early-onset paroxysmal choreoathetosis, dystonia, myoclonus, or a combination of the above, which primarily involved the limbs, face, and neck. Other common clinical features are axial hypotonia and episodic exacerbation of dyskinesia. Both sporadic and inherited cases have been reported and the predomiant mode of inheritance is autosomal dominant. Herein, we describe the first ADCY5-related dyskinesia patient in Taiwan.",

keywords = "ADCY5, Chorea, Dyskinesia, Dystonia, Whole exome sequencing",

author = "Chen, {Shih Ying} and Ho, {Chen Jui} and Lu, {Yan Ting} and Lin, {Chih Hsiang} and Tsai, {Meng Han}",

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T1 - ADCY5-related dyskinesia

T2 - a case report

AU - Chen, Shih Ying

AU - Ho, Chen Jui

AU - Lu, Yan Ting

AU - Lin, Chih Hsiang

AU - Tsai, Meng Han

PY - 2022/12

Y1 - 2022/12

N2 - Adenylyl cyclase 5 (ADCY5) related dyskinesia is a rare disorder characterized by early-onset paroxysmal choreoathetosis, dystonia, myoclonus, or a combination of the above, which primarily involved the limbs, face, and neck. Other common clinical features are axial hypotonia and episodic exacerbation of dyskinesia. Both sporadic and inherited cases have been reported and the predomiant mode of inheritance is autosomal dominant. Herein, we describe the first ADCY5-related dyskinesia patient in Taiwan.

AB - Adenylyl cyclase 5 (ADCY5) related dyskinesia is a rare disorder characterized by early-onset paroxysmal choreoathetosis, dystonia, myoclonus, or a combination of the above, which primarily involved the limbs, face, and neck. Other common clinical features are axial hypotonia and episodic exacerbation of dyskinesia. Both sporadic and inherited cases have been reported and the predomiant mode of inheritance is autosomal dominant. Herein, we describe the first ADCY5-related dyskinesia patient in Taiwan.

KW - ADCY5

KW - Chorea

KW - Dyskinesia

KW - Dystonia

KW - Whole exome sequencing

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DO - 10.1186/s42466-022-00204-w

M3 - 快报

AN - SCOPUS:85147469603

SN - 2524-3489

VL - 4

JO - Neurological Research and Practice

JF - Neurological Research and Practice

IS - 1

M1 - 39

ER -

ADCY5-related dyskinesia: a case report

Abstract

Bibliographical note

Keywords

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