Objective: To report a case of ADCY5-related disorder case associated with status dystonicus and DBS efficacy in this patient.

Background: Early-onset hyperkinesias may occur in many disorders. ADCY5-related disorders has been recently recognized as a cause. Genetic advances has allowed to expand the phenotype in several known genetic disorders.

Methods: Case report.

Results: A 28 year-old female was referred to our movement disorder clinic due to involuntary generalized movements, disarthria and gait disorder. She had a history of delayed gait acquisition and onset of frequent and paroxystic generalized dystonic movements at the onset of sleep, lasting 30 seconds, at 6 years of age. Pregnancy and delivering occurred without complications, and there was no family history or consanguinity. Her dystonic movements progressively worsened and also occurred during the daytime with nocturnal predominance. She subsequently developed marked oromandibular dyskinesias and lost her independente gait due to dystonia. Metabolic and genetic tests, including GLUT1-SD, episodic ataxia type 1, and mutation of tyrosine hydroxylase were negative. ADCY5 genetic test with a compound heterozygous mutation (c.1252C> T) was present. In 2011 she developed status dystonicus during a respiratory infection and was admitted to intensive care unit for 10 days with improvement of dystonia. She underwent a bilateral DBS in GPi with significant improvement being able to walk independently again. This benefit is mantained 6 years after the surgery.

Conclusions: We report a case of ADCY5 characterized by with childhood-onset generalized dystonia, nocturnal worsening and oromandibular dyskinesias. The status dystonicus is not described in this pathology, and may improve significantly after DBS. ADCY5 makes a differential diagnosis with cerebral palsy, and should be considered in cases of oromandibular hypercines with nocturnal aggravation.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/adcy5-related-disorder-associated-with-status-dystonicus/