Objective: To describe a rare case of adult-onset axial dystonia treated successfully with a  combined therapeutic approach.

Background: Adult-onset truncal dystonia is an unusual condition characterized by involuntary truncal muscles contraction, leading to highly disabling postures. Though commonly attributed to secondary etiologies, functional and idiopathic nature should also be considered. Therapeutic options (anticholinergic or onabotulinum toxinA, BonTA, inoculations) and physical therapies are often not effective when used separately.

Method: We present a clinical case  of adult-onset axial dystonia with lumbar hyperlordosis treated with a combined approach based on drugs and physical therapy. Videos and gait analysis were used to quantify treatment effectiveness.

Results: A 41-year-old female presented with a 3-years history of progressive truncal extension appearing during standing and walking, associated to dyskinetic-dystonic movements of the right arm and facial grimaces. Symptoms presented reproducibility, consistency and lack of distractibility. Brain MRI excluded basal ganglia pathology. Paravertebral and abdominal muscles electromyography showed a co-contraction pattern at 5-6Hz bilaterally, ruling out a psychogenic etiology. Genetic analysis and paraneoplastic antibody panel excluded a PLAG2G6 mutation and a stiff person syndrome, respectively. The patient was started on oral thriesilphenidile and received BonTA inoculation in the axial and facial muscles. A device generating focal mechanical vibrations was applied to specific sites of the body and the patient received daily sessions of physical therapy based on visual cues. After 4 weeks, she showed a clinically relevant improvement in standing and walking, confirmed by gait analysis parameters, associated with an important reduction of dyskinetic-dystonic movements.

Conclusion: Adult-onset axial dystonia is a rare disabling condition with an insidious diagnostic process, frequently refractory to treatments. Our case contributes to the phenotypic description of the condition and suggests the benefit of a combined drug-physical therapy approach.  The long-term effect of the proposed treatment is presently under assessment.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/adult-onset-axial-dystonia-a-rare-condition-that-can-lean-on-an-early-combined-treatment-approach/