Rehabilitation Strategies for GAD65 Spectrum Disorders: A Multidisciplinary Approach

Case Diagnosis: Patient is a 33 year old female who developed rapidly progressive dystonia secondary to Anti-GAD65 Overlap Syndrome.

Case Description or Program Description: A previously healthy 33-year-old female developed rapid-onset dystonia in January 2021, followed by unilateral ptosis and diplopia, initially diagnosed as myasthenia gravis. Despite treatment with prednisone, plasmapheresis, and IVIG, her symptoms progressed to facial numbness, speech difficulty, episodic weakness, balance issues, pseudobulbar affect, and dysphonia. By 2025, she was hospitalized for aspiration pneumonia amid worsening dystonia and cognitive decline. Given her constellation of symptoms—including dystonia, cranial nerve involvement, episodic weakness, cognitive decline, and pseudo-bulbar affect— Anti-GAD65 spectrum disorder was strongly considered. Rehabilitation included gait training (LiteGait, treadmill), balance therapy (Berg Scale, vestibular training), dystonia management (PNF, FES), adaptive OT (CIMT, weighted utensils), and ST (swallow therapy, behavioral PBA treatment) to optimize function despite disease progression.

Setting: Acute inpatient rehabilitation facility

Assessment/Results: The patient's dystonia and dysphonia improved, but despite intensive multidisciplinary rehabilitation, the patient remained functionally dependent, requiring walker assistance for ambulation, supervision for ADLs, and modified diet for dysphagia management. Cognitive decline and pseudobulbar affect persisted but were partially managed with behavioral and pharmacologic interventions.

Discussion (relevance): This case illustrates the complexity of diagnosing and managing Anti-GAD65 spectrum disorder, given its progressive nature and overlap with other neurological conditions like myasthenia gravis. The patient’s initial treatment was ineffective, emphasizing the need for accurate diagnosis and consideration of autoimmune etiologies. Her progressive symptoms, including dystonia, cognitive decline, and dysphagia, supported the diagnosis. The lack of improvement with conventional treatments highlights the importance of early intervention and multidisciplinary rehabilitation, which can optimize functional independence despite disease progression.

Conclusions: This case reinforces the need for a comprehensive rehabilitation approach in managing Anti-GAD65 spectrum disorder. Although treatments may be limited, rehabilitation therapies remain essential in improving quality of life and functional capabilities.