Dystonias are potentially disabling neurological conditions that can greatly affect quality of life. Effective treatments are sparse, with botulinum toxin (Botox) injections into the affected muscles considered the first-line therapy. However, the injections do not work for every patient with dystonia, and there has been no established way for clinicians to determine who would benefit and who would not prior to treatment initiation.
In a new study published November 28 in Annals of Neurology, an artificial intelligence platform called DystoniaBoTXNet used brain MRIs to automatically identify which patients would respond to botulinum toxin treatment with 96.3 percent accuracy. Such a platform can inform clinicians’ treatment decisions, according to senior study author Kristina Simonyan, MD, PhD, Dr med, director of Laryngology Research at Mass Eye and Ear, a member of Mass General Brigham, and professor of Otolaryngology-Head and Neck Surgery at Harvard Medical School.
“Typically, a patient with dystonia would undergo a series of dose- and location-finding injections to determine whether botulinum toxin relieves their symptoms. Injections are painful and costly,” said Dr. Simonyan. “Yet, some may find no benefits from this treatment despite multiple injection attempts, while some might benefit from injections but give up after only one dose or forgo the treatment altogether. With this artificial intelligence algorithm, we can empower clinicians and patients in their therapeutic decision-making by providing them with an objective tool to replace the trial-and-error approach to botulinum toxin efficacy.”
Pervasive Treatment Challenges for Patients with Dystonia
People with dystonias experience involuntary contractions or tensing of muscles which can lead to uncontrolled movements that significantly impact physical and emotional quality of life. Isolated focal dystonias affect one part of the body, with common examples including: laryngeal dystonia affecting the vocal cords when speaking, blepharospasm causing involuntary eyelid twitching, cervical dystonia causing the neck muscles to contract and the head to twist painfully and writer’s cramp dystonia affecting the fingers during writing. About 35 of every 100,000 people have isolated or primary dystonia — a prevalence that is likely underestimated due to challenges diagnosing the disorder.
Botulinum toxin injections are considered the first-line treatment for focal dystonias. The injection paralyzes the affected muscle, aiming to prevent the involuntary contractions. The effects are usually temporary, and an injection often needs to be repeated every three-four months for life.
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