scholarly journals Stiff-Person Syndrome: Seeing Past Comorbidities to Reach the Correct Diagnosis

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Jared Hicken ◽  
Daniel Ramirez ◽  
Mark Rigby ◽  
Aram Minasian
Keyword(s):  
Correct Diagnosis ◽  
Acid Decarboxylase ◽  
Muscle Rigidity ◽  
African American Female ◽  
Stiff Person Syndrome ◽  
Gamma Aminobutyric Acid ◽  
Axial Muscle ◽  
History Of ◽  
The Central Nervous System ◽  
Psychotic Features

Stiff-person syndrome (SPS) is a rare disorder seen in approximately one in one million people. Although it is rare, the symptoms and findings of a typical case should paint a clear clinical picture for those who are familiar with the disease. The primary findings in SPS include progressive axial muscle rigidity as well as muscle spasms. These symptoms most commonly occur in the setting of antibodies against Glutamic Acid Decarboxylase (GAD), the rate-limiting enzyme in the production of Gamma-Aminobutyric Acid (GABA), which is the primary inhibitory enzyme in the central nervous system. Here, we report the case of a 65-year-old African-American female with a past medical history of hypothyroidism, anxiety, and depression with psychotic features who presented with axial muscle rigidity and lactic acidosis. She had been symptomatic for several months and reported extensive workups performed at two previous hospitals without a definitive diagnosis. A complete neurological and musculoskeletal investigation yielded no positive findings except for the presence of GAD antibodies. The patient was treated with diazepam, tizanidine, and Intravenous Immunoglobulin (IVIG) with significant improvement, thus solidifying the diagnosis of SPS, a rare autoimmune and/or paraneoplastic syndrome.

scholarly journals One in a Million: A Case Report of Stiff Person Syndrome

2022 ◽  
Vol 2022 ◽  
pp. 1-5
Author(s):  
Ruchi Yadav ◽  
Neeraj Abrol ◽  
Sima Terebelo
Keyword(s):  
Central Nervous System ◽  
Treatment Options ◽  
Acid Decarboxylase ◽  
Stiff Person Syndrome ◽  
Case Presentation ◽  
Rehabilitation Facility ◽  
Motor Unit Firing ◽  
Excitatory Neurotransmitters ◽  
History Of ◽  
The Central Nervous System

Stiff person syndrome (SPS) is a rare autoimmune disease caused by lack of inhibition to excitatory neurotransmitters in the central nervous system (CNS) leading to inappropriate motor unit firing. The pathophysiology is incompletely understood; however, high titers of antiglutamic acid decarboxylase antibody (anti-GAD Ab) are strongly associated with this disease. We present a 50-year-old woman with a history of ongoing gait and balance issues for 5 years with multiple negative workups. She recently had an acute exacerbation which left her bedbound, unable to move her legs or turn from side to side. After a negative workup at an outside hospital, the patient was discharged to a subacute rehabilitation facility. She then presented to our institution due to worsening of her condition and was ultimately diagnosed with SPS which was successfully treated. We review the case presentation and treatment options in the context of a severe disabling disease presentation.

scholarly journals Neurological Syndromes Associated with Anti-GAD Antibodies

2020 ◽  
Vol 21 (10) ◽  
pp. 3701 ◽  
Author(s):  
Maëlle Dade ◽  
Giulia Berzero ◽  
Cristina Izquierdo ◽  
Marine Giry ◽  
Marion Benazra ◽  
...  
Keyword(s):  
Unmet Need ◽  
Acid Decarboxylase ◽  
Gamma Aminobutyric Acid ◽  
Gad Antibodies ◽  
Intracellular Enzyme ◽  
Inhibitory Neurotransmitter ◽  
Predictors Of Response ◽  
Physiologic Function ◽  
The Central Nervous System ◽  
Relative Rarity

Glutamic acid decarboxylase (GAD) is an intracellular enzyme whose physiologic function is the decarboxylation of glutamate to gamma-aminobutyric acid (GABA), the main inhibitory neurotransmitter within the central nervous system. GAD antibodies (Ab) have been associated with multiple neurological syndromes, including stiff-person syndrome, cerebellar ataxia, and limbic encephalitis, which are all considered to result from reduced GABAergic transmission. The pathogenic role of GAD Ab is still debated, and some evidence suggests that GAD autoimmunity might primarily be cell-mediated. Diagnosis relies on the detection of high titers of GAD Ab in serum and/or in the detection of GAD Ab in the cerebrospinal fluid. Due to the relative rarity of these syndromes, treatment schemes and predictors of response are poorly defined, highlighting the unmet need for multicentric prospective trials in this population. Here, we reviewed the main clinical characteristics of neurological syndromes associated with GAD Ab, focusing on pathophysiologic mechanisms.

scholarly journals 076 A rare case of anti-glutamate decarboxylase antibody syndrome presenting with recurrent vomiting

2019 ◽  
Vol 90 (e7) ◽  
pp. A24.1-A24
Author(s):  
Shoaib Dal ◽  
Bill O’Brien
Keyword(s):  
Weight Loss ◽  
Whole Body ◽  
Oligoclonal Bands ◽  
Acid Decarboxylase ◽  
Therapeutic Trial ◽  
List Type ◽  
Stiff Person Syndrome ◽  
Ct Angiogram ◽  
Recurrent Vomiting ◽  
History Of

IntroductionAnti-glutamte decarboxylase antibody (anti-GAD) has been linked with various neurological syndromes including stiff-person syndrome, limbic encephalopathy, cerebellar ataxia, eye movement disorders and epilepsy (collectively known as ‘anti-GAD positive neurological syndromes’).1 We describe a very atypical phenotypic presentation of anti-GAD syndrome with unexplained vomiting and weight loss.CaseA 46 years old lady with no past medical or family history of note, presented with 6 months history of severe headaches and recurrent attacks of episodic vomiting (4–6 episodes of multiple vomiting daily) with no identified precipitant and complete normality in between the episodes with no other associated symptoms. She reported 15 kg of unintentional weight loss. Neurological examination and investigations including MRI brain, CT angiogram and liver enzymes, immunoglobulins, thyroid function, vasculitic screen were normal. Upper GI endoscopy, gastric emptying studies, CT imaging of chest, abdomen and pelvis and whole body PET scan were unremarkable. Serum autoimmune antibody screen was positive with high titre of anti-GAD antibody (1200 kU/liter). The cerebrospinal fluid anti-GAD antibody titre was raised at 103.7 kU/liter with otherwise normal parameters including negative oligoclonal bands. The nerve conduction studies did not show continuous motor activity or spasmodic reflex myoclonus (seen in stiff-person syndrome).2 A therapeutic trial of immunosuppression was introduced with moderate improvement in symptoms.ConclusionAnti-GAD neurological syndromes are rare and this is a unique presentation of the same. It is not completely understood why the presence of one antibody causes varied syndromes. The hypothesis is that the recurrent vomiting is possibly due to diaphragmatic spasms.ReferencesSaiz A, Blanco Y, Sabater L, et al. Spectrum of neurological syndromes associated with glutamic acid decarboxylase antibodies: diagnostic clues for this association. Brain 2008;131:2553–2563.Buechner S, Florio I, Capone L. Stiff person syndrome: A rare neurological disorder, heterogeneous in clinical presentation and not easy to treat. Case Rep Neurol Med2015; 2015:278065.

scholarly journals Paraneoplastic Stiff Person Syndrome in Early-Stage Breast Cancer with Positive Anti-Amphiphysin Antibodies

2020 ◽  
Vol 12 (3) ◽  
pp. 339-347
Author(s):  
Vitalie Vacaras ◽  
Enia Eleonora Cucu ◽  
Roxana Radu ◽  
Dafin Fior Muresanu
Keyword(s):  
Breast Cancer ◽  
Breast Tumor ◽  
Early Stage ◽  
Acid Decarboxylase ◽  
Muscle Rigidity ◽  
Stiff Person Syndrome ◽  
Gad Antibodies ◽  
Neurologic Disorder ◽  
Muscle Cramps ◽  
Classic Form

Stiff person syndrome (SPS) is a rare neurologic disorder, characterized by muscle rigidity and spasms. Anti-glutamic acid decarboxylase (anti-GAD) antibodies are associated with the classic form of SPS, while antibodies against amphiphysin are associated with the paraneoplastic form of the disease. We present the case of a patient with paraneoplastic SPS, presenting with muscle cramps of lower extremities that progressed to severe muscle rigidity and spasms, associated with a right breast tumor and positive anti-amphiphysin antibodies. Paraneoplastic SPS is a rare neurological disorder, challenging for the physicians both to diagnose and treat.

scholarly journals Difficult to Treat Focal, Stiff Person Syndrome of the Left Upper Extremity

2017 ◽  
Vol 2017 ◽  
pp. 1-3
Author(s):  
Nathan E. Esplin ◽  
John W. Stelzer ◽  
Timothy B. Legare ◽  
Sayed K. Ali
Keyword(s):  
Upper Extremity ◽  
Muscle Tone ◽  
Good Control ◽  
Symptomatic Treatment ◽  
Muscle Rigidity ◽  
Stiff Person Syndrome ◽  
Mild Improvement ◽  
History Of ◽  
Gad 65 ◽  
Axial Musculature

Background. Stiff person syndrome (SPS) is a rare neurologic disorder characterized by muscle rigidity. It is a disorder of reduced GABA activity leading to increased muscle tone and often painful spasms. It generally presents in the axial musculature but rarely can involve only one limb, typically a lower extremity. In rare cases it can be paraneoplastic which generally resolves on treatment of the underlying neoplasm. Case Report. A 46-year-old male with a history of Hodgkin’s Lymphoma in remission presented with left upper extremity pain secondary to a diagnosis of Stiff Person Syndrome limited to his left upper extremity. He had previously benefitted from plasmapheresis and was on diazepam and baclofen at home with relatively good control of his symptoms. SPS had previously been diagnosed with EMG and anti-GAD-65 antibody titers and was confirmed by an elevated anti-GAD-65 antibody titer. He was treated with plasmapheresis and maximum doses of medical treatment including botulinum toxin with only transient mild improvement in his symptoms. Conclusion. This case represents a case of a rare disease that was refractory to all known therapies. It outlines the need for further understanding of this disorder in order to provide better symptomatic treatment or potentially more definitive care.

Stiff-Person Syndrome: Autoimmunity and the Central Nervous System

CNS Spectrums ◽  
2001 ◽  
Vol 6 (5) ◽  
pp. 427-433 ◽  
Author(s):  
Beth Brianna Murinson ◽  
Angela Vincent
Keyword(s):  
Symptomatic Treatment ◽  
Intravenous Immunoglobulins ◽  
Muscle Stiffness ◽  
Psychiatric Evaluation ◽  
Acid Decarboxylase ◽  
Stiff Person Syndrome ◽  
Neurodegenerative Process ◽  
The Central Nervous System ◽  
External Stimuli

AbstractStiff-person syndrome (SPS) is a rare disease of severe progressive muscle stiffness in the spine and lower extremities with superimposed muscle spasms triggered by external stimuli. Patients with SPS are often referred for psychiatric evaluation and the psychiatrist may be the first to diagnosis SPS. Psychosocial stressors often precede the first manifestations of the disease; depression, anxiety, and alcohol abuse are comorbid illnesses. The identification of an association with antibodies to glutamic acid decarboxylase (GAD) was invaluable for definitively establishing a pathological basis for the disease; antibodies to amphiphysin and gephyrin are also found in cases of SPS but at much lower frequencies. Whether the antibodies inhibit GAD activity in vivo, target GAD-expressing neurons for immune-mediated destruction, are part of a wider immune process, or are merely a marker for destruction of GAD-expressing neurons by an independent neurodegenerative process is not yet clear. Both electromyography and the detection of GAD antibodies are useful in establishing a diagnosis of SPS. Treatment of SPS includes the use of immunomodulating therapies (plasmapheresis and intravenous immunoglobulins) and symptomatic treatment with benzodiazepines and baclofen. The use of tricyclic antidepressants and rapid withdrawal from therapy should be avoided.

scholarly journals Why It Is Not Always Anxiety: A Tough Diagnosis of Stiff Person Syndrome

2017 ◽  
Vol 2017 ◽  
pp. 1-3 ◽  
Author(s):  
Carmen Elena Cervantes ◽  
Hsien Lee Lau ◽  
Tina Ataian Binazir ◽  
Keith O. O’Brien ◽  
Jonathan S. Cross
Keyword(s):  
Anxiety Disorder ◽  
Hospital Admissions ◽  
Beta Blockers ◽  
Panic Attacks ◽  
Acid Decarboxylase ◽  
Stiff Person Syndrome ◽  
Gamma Aminobutyric Acid ◽  
Magnetic Resonance Imaging Mri ◽  
Electroencephalogram Eeg

Anxiety disorder is a commonly used diagnosis that may mask underlying conditions. Stiff person syndrome (SPS) is a rare neuroimmunological disorder characterized by progressive rigidity and painful muscle spasms affecting axial and lower extremity musculature. These episodes can be triggered by sudden movement, noise, or emotional stress, which may present as a psychiatric condition. We report the case of a 30-year-old female who presented with recurrent panic attacks with multiple prior hospital admissions for anxiety, rigidity, and difficulty in walking. Previous electroencephalogram (EEG) and brain and cervical spine magnetic resonance imaging (MRI) were unremarkable. She was empirically treated with diazepam and beta-blockers for SPS, which was confirmed by positive glutamic acid decarboxylase (GAD) antibodies. The patient’s symptoms became refractory to benzodiazepines and required steroids with intravenous immunoglobulin (IVIG). Her rigidity subsequently responded to plasmapheresis. In SPS, antibodies in the cerebrospinal fluid (CSF) most commonly target the GAD antigen on gamma-aminobutyric acid (GABA) neurons. The goal of treatment is to ameliorate symptoms and improve quality of life. Our case of SPS was masked as generalized anxiety disorder for at least six years since onset of symptoms. The criteria for both diagnoses may overlap as seen in this patient.

scholarly journals Cerebellar Ataxia Followed by Stiff Person Syndrome in a Patient with Anti-GAD Antibodies

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Sinali O. Seneviratne ◽  
Katherine A. Buzzard ◽  
Belinda Cruse ◽  
Mastura Monif
Keyword(s):  
Cerebellar Ataxia ◽  
Acid Decarboxylase ◽  
Stiff Person Syndrome ◽  
Gamma Aminobutyric Acid ◽  
Neurological Manifestations ◽  
Rare Occurrence ◽  
Gad Antibodies ◽  
Long Term Follow Up

Anti-GAD antibody syndrome is a result of the production of antibodies against glutamic acid decarboxylase (GAD), the main enzyme responsible for the production of gamma-aminobutyric acid (GABA). Several neurological manifestations including cerebellar ataxia and stiff person syndrome have been reported in association with anti-GAD antibodies. In this paper, we present a case of a young woman with anti-GAD antibodies who initially presented with cerebellar ataxia followed by stiff person syndrome three and a half years later. Having both cerebellar ataxia and stiff person syndrome is a rare occurrence in anti-GAD antibody syndrome. We emphasise the importance of long-term follow-up of patients with anti-GAD antibody syndrome, as delayed neurological manifestations can occur.

Body Spasms in a Woman With Thyroid Disease

2021 ◽  
pp. 116-117
Author(s):  
Andrew McKeon
Keyword(s):  
Cerebrospinal Fluid ◽  
Symptomatic Relief ◽  
Acoustic Startle ◽  
Acoustic Startle Response ◽  
Lower Extremities ◽  
Acid Decarboxylase ◽  
Stiff Person Syndrome ◽  
Patient Reported ◽  
History Of ◽  
Normal Strength

A 46-year-old woman with a history of autoimmune Hashimoto thyroiditis sought care for a 6-month history of spasms affecting her back and bilateral proximal lower extremities. On examination, the patient appeared anxious, and her whole body seemed to stiffen when the examiner entered the room. Her cognitive, cranial nerve, and upper extremity examinations were normal, except for brisk deep tendon reflexes. Examination of the patient’s spine indicated hyperlordosis of the lumbar region. There was visible hypertrophy of the lumbar paraspinal muscles. When asked to walk, the patient took short, tentative steps, despite having normal strength in her lower extremities. Her lower extremity tone demonstrated diffuse rigidity. Cerebrospinal fluid evaluation showed isolated increased protein concentration. Autoantibody testing of the serum and cerebrospinal fluid showed markedly increased levels of glutamic acid decarboxylase 65-kDa isoform–immunoglobulin G antibody in serum and in cerebrospinal fluid. Neurophysiologic studies in a movement disorders laboratory indicated a nonhabituating, exaggerated, acoustic startle response. Stiff-person syndrome was diagnosed. The patient received diazepam for symptomatic relief. At her follow-up visit, the patient reported reduction in frequency and severity of spasms but persistent stiffness throughout the lower back and lower extremities. Intravenous immunoglobulin was. After 3 months, the patient reported a 50% further improvement in stiffness and spasms but still required a walking aid. Physical therapy sessions focused on gait and safety, the patient was able to resume ambulation with a cane, without further falls. Stiff-person syndrome was described by Moersch and Woltman at Mayo Clinic in 1956. It most commonly arises in women of middle age but can affect men, women, and children. It is an autoimmune disorder of brainstem and spinal cord inhibitory interneuronal pathways, leading to what is termed central hyperexcitability.

Stiff-person syndrome with acute recurrent peripheral vertigo: possible evidence of gamma aminobutyric acid as a neurotransmitter in the vestibular periphery

2007 ◽  
Vol 122 (6) ◽  
pp. 636-638 ◽  
Author(s):  
R Teggi ◽  
L O Piccioni ◽  
G Martino ◽  
C Bellini ◽  
M Bussi
Keyword(s):  
Glutamic Acid ◽  
Glutamic Acid Decarboxylase ◽  
Aminobutyric Acid ◽  
Acid Decarboxylase ◽  
Stiff Person Syndrome ◽  
Gamma Aminobutyric Acid ◽  
Vestibular Damage ◽  
Peripheral Vertigo

AbstractObjective:We report a case of a 58-year-old man suffering from stiff-person syndrome and recurrent peripheral vertigo.Method:A case report and a review of the recent literature on stiff-person syndrome are presented.Results:The patient presented with recurrent episodes of vertigo with a pure peripheral pattern and with concomitant episodes of burning muscle pain, muscle twitching, weight gain and fatigue, worsening with tension or stress that also occurred in periods without vertigo. Cochlear examinations only showed presbyacusis-like hearing loss. The diagnosis of stiff-person syndrome was made with electromyographic examination and from findings in the blood and cerebrospinal fluid of high titres of anti-glutamic acid decarboxylase (GAD67) autoantibodies. In a two-year follow-up period, therapy for stiff-person syndrome abolished episodes of both stiffness and vertigo.Conclusion:As far as we know, no other clinical case of acute vestibular damage with a possible correlation with anti-glutamic acid decarboxylase antibodies has been described. Peripheral vertigo possibly related to a lack of gamma aminobutyric acid underlines a possible role of gamma aminobutyric acid as a neurotransmitter in the peripheral vestibular system.

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