Stiff-Person Syndrome: Diagnostic and Therapeutic Insights Into a Rare Autoimmune Neurological Disorder

Stiff-person syndrome (SPS) is a rare autoimmune neurological disorder that is frequently underrecognized due to overlapping musculoskeletal and neuropsychiatric symptoms, leading to delays in diagnosis. We report a 56-year-old Moroccan woman with a seven-year history of progressive lumbar stiffness and painful, stimulus-sensitive spasms extending to both lower limbs, resulting in marked functional limitation and falls. Serum testing showed markedly elevated anti-glutamic acid decarboxylase (anti-GAD) antibodies (greater than 20,000 U/mL), while the spine MRI revealed only mild degenerative changes, and whole-body positron emission tomography excluded malignancy. Symptomatic therapy with pregabalin and baclofen provided partial relief. Intravenous immunoglobulin was administered at a total dose of 2 g/kg over five days, yielding a substantial reduction in stiffness and spasm frequency; at one month, she demonstrated improved mobility and greater independence. Rituximab was proposed for long-term disease control given disease severity and seropositivity. This case underscores the diagnostic value of anti-GAD testing when imaging is unrevealing and highlights that timely initiation of immunotherapy, together with symptomatic agents and rehabilitation, can meaningfully improve outcomes. A multidisciplinary strategy is essential for sustained functional recovery and quality of life in SPS.

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Publication Details

Journal
Cureus
Published
2025-11-13
DOI
https://doi.org/10.7759/cureus.96786
Primary Topic
Autoimmune Neurological Disorders and Treatments
Type
article
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article

Stiff-Person Syndrome: Diagnostic and Therapeutic Insights Into a Rare Autoimmune Neurological Disorder

Yahya Naji, Taoufik Boubga, Nawal Adali
Cureus
Autoimmune Neurological Disorders and Treatments
article

Stiff-Person Syndrome: Diagnostic and Therapeutic Insights Into a Rare Autoimmune Neurological Disorder

Yahya Naji, Taoufik Boubga, Nawal Adali
article en

Abstract

Stiff-person syndrome (SPS) is a rare autoimmune neurological disorder that is frequently underrecognized due to overlapping musculoskeletal and neuropsychiatric symptoms, leading to delays in diagnosis. We report a 56-year-old Moroccan woman with a seven-year history of progressive lumbar stiffness and painful, stimulus-sensitive spasms extending to both lower limbs, resulting in marked functional limitation and falls. Serum testing showed markedly elevated anti-glutamic acid decarboxylase (anti-GAD) antibodies (greater than 20,000 U/mL), while the spine MRI revealed only mild degenerative changes, and whole-body positron emission tomography excluded malignancy. Symptomatic therapy with pregabalin and baclofen provided partial relief. Intravenous immunoglobulin was administered at a total dose of 2 g/kg over five days, yielding a substantial reduction in stiffness and spasm frequency; at one month, she demonstrated improved mobility and greater independence. Rituximab was proposed for long-term disease control given disease severity and seropositivity. This case underscores the diagnostic value of anti-GAD testing when imaging is unrevealing and highlights that timely initiation of immunotherapy, together with symptomatic agents and rehabilitation, can meaningfully improve outcomes. A multidisciplinary strategy is essential for sustained functional recovery and quality of life in SPS.

CureusVol. 17(11)
Military Hospital (PK), Université Ibn Zohr (MA), Régie Autonome Multi Services D'Agadir (MA)
Openalex Percentile: Top 53%
Autoimmune Neurological Disorders and Treatments
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Stiff-Person Syndrome: Diagnostic and Therapeutic Insights Into a Rare Autoimmune Neurological Disorder — Yahya Naji, Taoufik Boubga, et al. · Cureus (2025) | TGRS Research Map | TGRS