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ADCY5-related dyskinesia
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

ADCY5-related dyskinesia

ADCY5-related dyskinesia is a rare movement disorder characterized by sudden, involuntary muscle movements that can affect the limbs, neck, and face.

Overview

ADCY5-related dyskinesia is a condition involving abnormal involuntary movements, known as dyskinesia. These movements typically manifest as sudden (paroxysmal) jerks, twitches, tremors, muscle tensing (dystonia), or writhing (choreiform) movements.

Symptoms

Symptoms usually begin between infancy and late adolescence. The movements can occur continuously while awake and often disrupt sleep. Triggers for these involuntary movements include changing positions or intentional physical activity.

  • Infants: May experience weak muscle tone (hypotonia) and delayed motor skill development, such as crawling or walking. Some may eventually require a wheelchair.
  • Mild cases: May have little impact on mobility but can cause clumsiness or social challenges.
  • Progression: The condition may remain stable, worsen in frequency and severity, or improve in middle age.
  • Exacerbating factors: Anxiety, fatigue, and stress can temporarily increase the severity of symptoms.

Most individuals with this condition have normal intelligence, and life expectancy is generally not affected.

Causes

The disorder is caused by mutations in the ADCY5 gene, which provides instructions for the enzyme adenylate cyclase 5. This enzyme converts ATP into cyclic adenosine monophosphate (cAMP), a molecule involved in cellular signaling, including muscle contraction. Mutations are thought to either increase enzyme activity or prevent its production, though the exact mechanism leading to the movement disorder remains under investigation.

Inheritance

This condition is inherited in an autosomal dominant pattern. One copy of the altered gene in each cell is sufficient to cause the disorder. Cases may be inherited from an affected parent or result from a new mutation in individuals with no family history of the condition.

Frequently Asked Questions

Yes. Maintaining a consistent bedtime routine, using a dark‑quiet environment, and avoiding stimulants (caffeine, certain medications) in the late afternoon can reduce nocturnal episodes. Positioning the child on their side rather than supine may lessen positional triggers. Some families find that a low‑dose nighttime benzodiazepine or melatonin improves sleep continuity, but these should be prescribed after weighing risks.
Several agents have shown benefit in case series or small trials: low‑dose clonazepam or benzodiazepines can dampen myoclonus; caffeine (100–200 mg daily) paradoxically reduces dyskinesia in some patients; acetazolamide and trihexyphenidyl have been used with variable response. For refractory cases, deep brain stimulation of the globus pallidus internus has produced marked improvement in movement frequency and severity. Treatment must be individualized, and a trial of medication under specialist supervision is usually the first step.
DCY5‑related dyskinesia is autosomal dominant, so an affected parent transmits the mutation to each child with a 50 % chance. If the mutation is known, pre‑implantation genetic testing for monogenic disease (PGT‑M) with in‑vitro fertilization can select embryos without the pathogenic variant. Prenatal diagnostic testing (CVS or amniocentesis) is also available for families who prefer natural conception. Genetic counseling is essential to discuss these options and the variable expressivity of the disorder.
Key distinguishing features include paroxysmal, involuntary movements that worsen with positional changes, intentional activity, stress, fatigue, or anxiety; a mixed phenotype of chorea, dystonia, and myoclonus that may be present both awake and during sleep; and a normal or only mildly delayed developmental trajectory. Electrophysiological studies (EMG) can show brief bursts typical of myoclonus, and definitive differentiation is achieved by identifying a pathogenic ADCY5 variant through genetic testing.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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