Massachusetts Eye and Ear Infirmary
This research involves retrospective and prospective studies for clinical validation of a DystoniaNet deep learning platform for the diagnosis of isolated dystonia.
Isolated dystonia is a movement disorder of unknown pathophysiology, which causes involuntary muscle contractions leading to abnormal, typically patterned, twisting movements and postures. A significant challenge in the clinical management of dystonia is due to the absence of a biomarker and associated 'gold' standard diagnostic test. Currently, the diagnosis of dystonia is guided by clinical evaluations of its symptoms, which lead to a low agreement between clinicians and a high rate of diagnostic inaccuracies. It is estimated that only 5% of patients receive an accurate diagnosis at symptom…
Inclusion criteria: 1. Males and females of diverse racial and ethnic backgrounds, with age across the lifespan; 2. Patients will have at least one of the forms of dystonia, including focal dystonia (e.g., laryngeal, cervical, oromandibular, blepharospasm, focal hand, musicians), segmental dystonia, or generalized dystonia; 3. Patients will have other movement disorders (Parkinson's disease, essential tremor, dyskinesia, myoclonus) and other non-neurological conditions (tic disorders, torticollis, ulnar nerve entrapments, temporomandibular disorders, dysphonia) that mimic dystonic symptoms.…
DystoniaNet will be used for the diagnosis of dystonia and its differential diagnosis from other neurological and non-neurological disorders mimicking symptoms of dystonia
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