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Nocturnal Ballistic Bouts in ADCY5-Related Movement Disorder
Bhadra Sajeev Nair1, Boby Varkey Maramattom2
1Department of Medicine, Malankara Orthodox Syrian Church Medical College Hospital, Kolenchery, IND.
Cureus
|February 18, 2026
Summary
Adenylyl cyclase 5 (ADCY5)-related movement disorder (ADCY5-RMD) can persist into adulthood. This case highlights a late-onset presentation, emphasizing the need for genetic testing in hyperkinetic movement disorders.
Area of Science:
- Genetics
- Neurology
- Rare Diseases
Background:
- Adenylyl cyclase 5 (ADCY5)-related movement disorder (ADCY5-RMD) is a rare genetic hyperkinetic movement disorder.
- Characterized by childhood-onset chorea, dystonia, and myoclonus, often with nocturnal worsening and phenotypic variability.
- Frequently misdiagnosed due to normal neuroimaging and minimal progression.
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