450 - Exploring Stiff Person Syndrome: A Case Report

Case Diagnosis: Stiff Person Syndrome, A Case Report

Case Description: Patient is a 30-year-old female with Stiff Person Syndrome (SPS) diagnosed at age 15, Hashimoto's thyroiditis, depression, and anxiety who presented for severe spasms in her torso and extremities concerning for a SPS flare. Anti-glutamic acid decarboxylase (GAD65) antibodies on admission were found to be elevated to 152 with normal being less than 5. She received intravenous immunoglobulin (IVIG) in conjunction with her home medications, including daily valium, tizanidine and intrathecal baclofen. Her symptoms improved and she was discharged to acute rehabilitation. However, shortly thereafter she had a subsequent flare requiring readmittance to acute care for additional IVIG treatment.

Discussions: SPS affects 1-2 people per million and occurs more commonly in women aged 20-50. It is a neurological disorder that causes muscle stiffness, rigidity, and painful spasms which can be triggered by tactile, auditory or emotional stimuli. It is caused by autoantibodies that target GABA-related neural pathways, and is associated with autoimmune conditions, such as type 1 diabetes (T1DM). Treatment is focused on reducing symptoms and may involve medications such as diazepam, gabapentin, and IVIG. Ongoing research has suggested the use of other medications such as Levetiracetam and a gluten-free diet as potential treatment options. Prognosis varies, but many patients experience gait decline, and the persistent spasms can cause irreversible joint contractures. Prompt initiation of treatment is essential to maintain or improve function, but the majority of patients eventually become disabled.

Conclusions: SPS is often underdiagnosed or misdiagnosed, leading to permanent physical and mental impairments if not treated promptly. Coexisting autoimmune conditions should be investigated since up to 35% of SPS patients have T1DM and 5% have autoimmune thyroid disease. Treatment should include symptom management, disease-modifying therapy, and selective physiotherapy such as aqua therapy, deep tissue massage, and psychotherapy.