Objective: To describe non-motor symptoms in a case of ACDY5-associated disease.

Background: The hereditary dyskinesia syndrome caused by an ACDY5 mutation was first described in 2001. To date, 46 patients with 6 different mutations have been described in the literature. Patients present during childhood or adolescence with choreiform movements, facial myokymia, dystonia, gait abnormality, abnormal saccadic eye movement and developmental delay.

Methods: We conducted a review of the literature by using the search terms “ACDY5,” “movement disorders,” “tics,” “cognition,” and “behavior” on PubMed. We report the case of a patient with an ACDY5 mutation who exhibited, in addition to the classical movement disorders phenotype, a broader spectrum of symptoms including tics, oppositional behavior and neuropsychological deficits with depression and cognitive impairment.

Results: The 11-year old boy with ACDY5 mutation presented since age 3 with mixed hyperkinetic disorder marked by choreatic movements of the extremities and the trunk as well as facial myokymia. His paroxysmal, mostly spontaneous attacks lasted 30s to 9min with dystonic and clonic movements of the extremities and oral movements without loss of consciousness or EEG findings.

At age 10, his condition was complicated by motor and vocal tics. He started repeating words multiple times, stamping his feet, hitting the table with his hands, and using insulting words. His symptoms worsened with stress or lack of sleep.

He also developed depression and disturbed social behavior. His social behavior disorders were marked by, among other, stealing, lying, aggression against siblings and classmates or breaking car glasses.

He showed a delayed motor and speech development complicated by cognitive impairments requiring intensive support at school. Two different intelligence tests were performed, a SON-R at age 6 with average results within normal limits and a WISC at age 10 with a result of 65.

Conclusions: ADCY5 mutations are the cause for a rare hereditary dyskinetic syndrome with a broad spectrum of movement disorders. Cognitive impairments may complicate the condition; however, it is unclear to which extent ADCY5 plays a role in cognitive development. Intellectual disabilities were reported in 10% and delayed language development in 30% of patients. We further expand the spectrum of motor and non-motor symptoms in ADCY5-associated diseases, as tics and behavior disorders have not yet been reported in the literature.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/non-motor-symptoms-in-acdy5-associated-disease/