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Case Reports
. 2024 Aug 27;16(8):e67887.
doi: 10.7759/cureus.67887. eCollection 2024 Aug.

Stiff Person Syndrome With Positive Anti-glutamic Acid Decarboxylase (GAD) Autoantibodies

Najoua Maarad  1 , Mounia Rahmani  1 , Nazha Birouk  2 , Adlaide Taho  1 , Wadii Bnouhanna  1 , Maria Benabdeljlil  1 , Saadia Aïdi  1
Affiliations
Case Reports

Stiff Person Syndrome With Positive Anti-glutamic Acid Decarboxylase (GAD) Autoantibodies

Najoua Maarad et al. Cureus. .

Abstract

Stiff person syndrome (SPS) is a progressive autoimmune disorder characterized by muscle rigidity, frequent falls, and spasms, affecting primarily women. Recent advances have linked SPS to specific antibodies, such as anti-glutamic acid decarboxylase (GAD)-65, but effective treatments remain elusive. We report the case of a 53-year-old female who developed chronic lower back pain, tingling paresthesias, and progressive rigidity in the lower limbs. Electromyographic examination revealed muscle spasms and co-contractions, along with severe rigidity and reactive spasms upon touch. Imaging studies showed a polymyomatous uterus and no hypermetabolic lesions. She was diagnosed with stiff person syndrome with positive anti-GAD65 autoantibodies. Patient was treated with methylprednisolone, oral corticosteroids, gabapentin, baclofen, alprazolam, immunoglobulins, and rituximab, leading to moderate improvement in her condition. This case report aims to highlight the association between SPS and anti-GAD65 autoantibodies, emphasizing the importance of early diagnosis and comprehensive management.

Keywords: gad antibody; muscle stiffness and spasms; spectrum disorders; stiff limb syndrome; stiff-person syndrome.

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Conflict of interest statement

Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.

Figures

Figure 1
Figure 1. Stiffness of lower limbs with deformities
Significant hyperextension, characteristic stiffness, and a varus equinus deformity of the feet. The marked rigidity and abnormal positioning are indicative of the underlying neuromuscular dysfunction associated with her condition, contributing to severe mobility limitations
Figure 2
Figure 2. Surface Electromyography (EMG) Recordings of the Muscles of the Right Thigh
Surface EMG recordings illustrating the simultaneous co-contraction of the agonist (quadriceps) and antagonist (hamstrings) muscles. The persistent and involuntary activation of both muscle groups highlights the neuromuscular dysfunction associated with the patient’s condition.
Figure 3
Figure 3. Pelvic MRI
Pelvic MRI showing a polymyomatous uterus with myomas classified as International Federation of Gynecology and Obstetrics (FIGO) 4, 5 (orange arrows), with some showing cystic degeneration (blue arrows).
Figure 4
Figure 4. Positron emission tomography (PET) with no hypermetabolic fluorodeoxyglucose (FDG)-avid lesions suggestive of malignancy
See this image and copyright information in PMC

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