- Dystonia with anarthria/aphonia is genetically heterogeneous and predominantly presents early in life, often with severe neurodevelopmental impairment.
- Most cases (92%) onset before age 8, commonly neonatal or infancy, with global developmental delay, seizures, and absent speech acquisition in early-onset cases.
- Early genetic diagnosis is essential to guide management, as targeted therapies are emerging; some patients received deep brain stimulation.
Mov Disord Clin Pract. 2026 Sep 30. doi: 10.1002/mdc3.70841. Online ahead of print.
ABSTRACT
BACKGROUND: Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management.
OBJECTIVES: To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing recognition and facilitating targeted diagnostic workup.
METHODS: We retrospectively reviewed patients with dystonia and anarthria/aphonia due to established genetic causes across the lifespan at The Hospital for Sick Children and Toronto Western Hospital. Demographic, clinical, genetic, and neuroradiological data were reviewed. Cases were categorized based on the age of onset of neurological symptoms: neonatal (0-4 weeks), infantile (4 weeks – 1 year), early childhood (1-8 years), late childhood/adolescence (8-18 years) and adulthood (>18 years).
RESULTS: Fifty-four patients were included, with a mean age of 15.8 years at last assessment (range: 17 months-53 years). We identified 39 distinct genetic etiologies including channelopathies, G-protein-related disorders, developmental and epileptic encephalopathies and metabolic disorders. Most (92%) presented before the age of 8 years, with symptom onset in infancy (37%), early childhood (32%) and neonatal period (24%); only four presented later. Early-onset cases demonstrated more severe phenotypes, including global developmental delay (100% of neonatal cases), seizures (54% of neonatal cases) and absent speech acquisition. Therapeutic interventions included deep brain stimulation in 12 patients, targeted gene or disease-specific therapies were available for three patients in our cohort.
CONCLUSION: Dystonia with anarthria/aphonia is genetically heterogeneous and predominantly early-onset, with severe neurodevelopmental impairment. Early genetic diagnosis is essential to guide management as targeted therapies emerge.
PMID:42817183 | DOI:10.1002/mdc3.70841
Share Evidence Blueprint
Save to Google Notes
Search Google Scholar
Save as PDF
⭐ My Revision List
