ADCY5-Related Dyskinesia: Improving Clinical Detection of an Evolving Disorder.

ABSTRACT:

Background

The phenotypic spectrum of adenylyl cyclase 5 (ADCY5)-related disease has expanded considerably since the first description of the disorder in 1978 as familial essential chorea in a multiplex family.

Objective

To examine recent advances in the understanding of ADCY5-related dyskinesia and outline a diagnostic approach to enhance clinical detection.

Methods

A pragmatic review of the ADCY5 literature was undertaken to examine unique genetic and pathophysiological features as well as distinguishing clinical features.

Results

With over 70 cases reported to date, the phenotype is recognized to be broad, although distinctive features include prominent facial dyskinesia, motor exacerbations during drowsiness or sleep arousal, episodic painful dystonic postu

SUBMITTER: Vijiaratnam N 

PROVIDER: S-EPMC6749814 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature