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Positive Glutamic Acid Decarboxylase Antibodies in a Non-diabetic 37-Year-Old Male Suggesting Stiff-Person Syndrome: A Case Report

David Marulanda (n/a, Pittsburgh, Pennsylvania); Anishinder Parkash; Brian Fellechner; Andrew J. Maza

Meeting: AAPM&R Annual Assembly 2022

Categories: Musculoskeletal and Sports Medicine (2022)

Session Information

Session Title: AA 2022 Posters - Musculoskeletal and Sports Medicine

Session Time: None. Available on demand.

Disclosures: David Marulanda: CVS (Products/Services: No) (Stockholder/Ownership Interest (excluding diversified mutual funds))Lonza Group (Products/Services: No) (Stockholder/Ownership Interest (excluding diversified mutual funds))Pfizer (Products/Services: No) (Stockholder/Ownership Interest (excluding diversified mutual funds))Vertex Pharmaceuticals (Products/Services: No) (Stockholder/Ownership Interest (excluding diversified mutual funds))

Case Diagnosis: A 37-year-old male with diffuse musculoskeletal pain and stiffness refractory to anti-rheumatoid treatment.

Case Description or Program Description: The patient presented to Physical Medicine and Rehabilitation (PM&R) with a history of neck pain, diffuse stiffness and myalgias refractory to medical intervention. He had failed adalimumab, hydroxychloroquine, diclofenac, duloxetine, and gabapentin when treatment was aimed at rheumatological disease. His MRI showed no acute process. PM&R ordered laboratory studies which revealed elevated glutamic acid decarboxylase antibodies(GAD Ab) and creatine kinase. He had no history of diabetes, which makes a false-positive reading unlikely. He was trialed on tizanidine and given a neurology consultation. Nerve conduction testing and electromyography was normal. Tizanidine was ineffective, thus discontinued in favor of baclofen. Neurology found no antibodies in cerebrospinal fluid after a lumbar puncture and added diazepam. Retesting of the GAD Ab by neurology showed an elevation and now with worsening symptoms. The decision was made to begin intravenous immunoglobulin (IVIG) with induction of 50 g daily for four days followed by 60 g twice every month for six months.

Setting: Acute care hospital.

Assessment/Results: Symptoms have minimally improved since beginning baclofen and diazepam. Patient will now undergo loading and maintenance dosing of IV IG and his symptom progression and quality of life will continue to be monitored.

Discussion (relevance): This case presents a very rare (especially in males) syndrome with a vague undefined presentation refractory to multiple modes of intervention. It offers a reminder for physicians to recall Stiff-person Syndrome into the differential diagnoses of patients presenting with diffuse stiffness and myalgia, especially of the proximal limbs and the back.

Conclusions: Stiff-person Syndrome is a rare and likely under-diagnosed neurologic disorder. Physicians must take holistic and systematic steps when dealing with potential cases to ensure patients receive appropriate treatment as it may be misdiagnosed as something more common.

Level of Evidence: Level V

To cite this abstract in AMA style:

Marulanda D, Parkash A, Fellechner B, Maza AJ. Positive Glutamic Acid Decarboxylase Antibodies in a Non-diabetic 37-Year-Old Male Suggesting Stiff-Person Syndrome: A Case Report [abstract]. PM R. 2022; 14(S1)(suppl 1). https://pmrjabstracts.org/abstract/positive-glutamic-acid-decarboxylase-antibodies-in-a-non-diabetic-37-year-old-male-suggesting-stiff-person-syndrome-a-case-report/. Accessed May 16, 2025.
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