Stiff Person Syndrome: Case Report

Journal of the National Medical …, 2010

Journal of Neurology, Neurosurgery & Psychiatry, 2005

São Paulo Medical Journal

Introduction: The rigid person syndrome is rare, characterized by blockade of the GAD enzyme, responsible for inhibiting muscle contraction. Although it is not mandatory for the diagnosis, most patients are positive for Anti-GAD. Objectives: To report a case of rigid person syndrome seen at Hospital Geral de Goiânia. Methods: Information was obtained through clinical follow-up in a neurology ward and outpatient clinic. Results: Patient, female, 32 years old, complaining of paresthesia ascending to upper limbs, worsening over a period of six months with paresis with gait impairment, increased tone and muscle spasms. Patient with multiple consultations with a neurologist and psychiatrist, using polypharmacy. During hospitalization, the patient reported severe pain in the limbs. On examination, she had grade 3 strength and quadrisegmental hypertonia with intermittent periods of generalized spasm, exacerbated during periods of greater anxiety. Hypothesis of rigid person syndrome was rai...

Revista Colombiana de Reumatología (English Edition), 2020

Stiff person syndrome affects the central nervous system. Relevant clinical signs are stiffness, muscle spasms, increased sensitivity with external stimuli that increase muscle contractions. Women are affected twice to three times more, in comparation with the men. There are characteristic clinical and electrophysiological type markers. The etiology is associated with mediation by antibodies and may be the expression of a paraneoplastic syndrome. Pharmacological treatment is focused on muscle relaxant-type medications, drugs with immunomodulatory or immunosuppressive mechanism. In addition, complementary rehabilitation treatment is required. The purpose of the group is to make the description of the clinical case that is relevant due to the low frequency of presentation and to carry out an update of the topic.

Advances in Clinical Medical Research and Healthcare Delivery

Stiff Person Syndrome (SPS) is a rare autoimmune disease that is caused by the lack of inhibition to excitatory neurotransmitters in the central nervous system (CNS) which then leads to inappropriate and excessive motor unit firing causing stiffness, a characteristic feature of the disease. SPS has an incidence of one case in a million and occurs in the middle-aged population with a female predominance. SPS mostly occurs in the background of autoimmune disorders like type 1 diabetes, thyroid disorders, pernicious anemia, and less often, vitiligo.. The pathophysiology is not completely understood; however, there is a strong correlation between high titers of anti-glutamic acid decarboxylase antibody (anti-GAD Ab) and the disease. We present an 82 years old man who complained of stiffness and weakness, mostly on the right side, with multiple negative workups. He was then eventually diagnosed with SPS based on the characteristic history and physical examination findings and being positive for anti-GAD Ab. He was treated with a combination of baclofen, gabapentin, intravenous immunoglobulins (IVIG), and physical therapy. We review the case presentation which was unusual in terms of age and sex, and treatment options in the context of a severe presentation of this disabling disease.

Stiff person syndrome (SPS) is a rare neurological disorder characterized by progressive muscle stiffness and rigidity, mostly involving axial muscles, resulting in functional disability. It is associated with elevated anti-Glutamic acid decarboxylase (GAD) antibody levels. Electromyography findings are often diagnostic. We present a case of a 48 years old male, who presented with progressive stiffness and rigidity of axial muscles and limbs. His EMG was consistent with SPS. Anti GAD antibodies were markedly elevated. He was treated with rituximab and has improved significantly. SPS is a difficult diagnosis, usually under diagnosed due to lack of awareness among medical community. There is a dire need to further study the disease and invent better treatment options for patients suffering from SPS.

2021

Stiffperson syndrome (SPS) is one of the rarest neurological disorders. It is an autoimmune disease with antibodies against glutamic acid decarboxylase enzyme needed to produce neurotransmitter GABA. This disease is very debilitating and fatal if not managed in time. A 32-year-old man presented with stiffness of abdominal and thoracolumbar paraspinal muscles first noticed 10 months back. There was history of jerkiness of hands. After excluding other mimicking conditions like multiple sclerosis, parkinsonism and axial dystonia, a diagnosis of Stiffperson syndrome was made. Treatment with IVIG therapy along with anti-spasticity drugs resulted in improved patient outcome. SPS is potentially treatable though cannot be cured. Not one treatment fits all patients with SPS and may have to be tailored according to the clinical manifestations. Increasing awareness in medical doctors and identifying the disease early can help the patients escape the disabling effects of SPS and improve the qua...

BMJ case reports, 2010

Stiff-person syndrome (SPS) is a rare neurological condition consisting of progressive and fluctuating rigidity of the axial muscles combined with painful spasms. The pathophysiology of SPS is not fully understood, but there seems to be an autoimmune component. The use of rituximab, a chimeric monoclonal antibody targeting CD20 protein in the surface of mature B cells, for the treatment of SPS is a recent therapeutical approach showing promising results. The authors present a case report of a 41-year-old female patient diagnosed with SPS who was treated with rituximab in a public hospital in Brasília, Brazil, showing a good and safe response to the treatment so far. Our data go along with some recent articles published in the literature.

Case Reports in Rheumatology

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.

Case reports in neurological medicine, 2015

Background. Stiff person syndrome (SPS) is a rare neurological disorder characterized by progressive rigidity of axial and limb muscles associated with painful spasms. SPS can be classified into classic SPS, paraneoplastic SPS, and SPS variants. Its underlying pathogenesis is probably autoimmune, as in most cases antibodies against glutamic acid decarboxylase (GAD) are observed. Similarly, paraneoplastic SPS is usually linked to anti-amphiphysin antibodies. Treatment is based on drugs enhancing gamma-aminobutyric acid (GABA) transmission and immunomodulatory agents. Case Series. Patient 1 is a 45-year-old male affected by the classic SPS, Patient 2 is a 73-year-old male affected by paraneoplastic SPS, and Patient 3 is a 68-year-old male affected by the stiff limb syndrome, a SPS variant where symptoms are confined to the limbs. Symptoms, diagnostic findings, and clinical course were extremely variable in the three patients, and treatment was often unsatisfactory and not well tolerat...