Immunological causes and treatment of dystonia are rarely reported in medical literature

Retrospective case-series of four patients presenting with intractable dystonia syndrome after failing conventional medical treatment. Video clips were obtained at baseline and post treatment.

There were 4 cases diagnosed with AD included in this study and all patients were females (4/4). The age of onset ranged between 20 to 57 years old, and duration of symptoms at time of presentation ranged between 3 weeks to 17 years. Generalized asymmetric dystonia was the most common presentation (4/4 patients), and parkinsonian symptoms (rigidity and resting tremors) were present in 1 (1/4 patients). AD clinical course was chronic in all cases with episodes of acute exacerbation consisting of severe painful muscular spasms affecting all extremities (4/4 patients) and tremors (2/4 patients). Magnetic resonance imaging of the brain showed normal findings (4/4 patients), and a dopamine transporter single-photon emission computed tomography (DaT SPECT) obtained in one patient was normal.

Serum and cerebrospinal fluid autoimmune encephalitis panels performed at Mayo Clinic laboratory were unremarkable. Immunotherapy was initiated in all cases using intravenous methylprednisolone 1 g daily for 5 days and intravenous immunoglobulin 0.4 gm/kg for 5 days, followed by azathioprine maintenance dose (2 mg/kg). Improvement of symptoms was evident in all cases (4/4) with complete resolution of AD in 2 cases (2/4 patients).

Generalized dystonia could be related to an autoimmune process. Patients with AD could potentially be misclassified as idiopathic and subsequently fail to receive proper treatment. Despite a significant delay in therapy, patients with AD may respond well to immunomodulators with a favorable outcome.