Stiff Limb Syndrome: End of Spectrum or A Separate Entity?

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...

Journal of the National Medical …, 2010

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.

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.

Journal of Medical Case Reports, 2010

Introduction First described in 1956, stiff person syndrome is characterized by episodes of slowly progressive stiffness and rigidity in both the paraspinal and limb muscles. Although considered a rare disorder, stiff person syndrome is likely to be under-diagnosed due to a general lack of awareness of the disease in the medical community. Case presentation A 27-year-old Hispanic woman presented to our emergency department with a sudden onset of shortness of breath and difficulty moving her right arm. Her physical examination was remarkable in that her abdomen was firm to palpation and her right upper extremity was rigid on passive and active ranges of motion. Her right fingers were clenched in a fist. Her electromyography findings were consistent with stiff person syndrome in the right clinical setting. Stiff person syndrome is confirmed by testing for the anti-glutamic acid decarboxylase antibody. Her test for this was positive. Conclusion Stiff person syndrome may not be a common...

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...

Cureus, 2017

Stiff-person syndrome (SPS) is a rare disorder that affects the central nervous system and is characterized by progressive muscle stiffness, rigidity, and spasm of axial and limb muscles. The syndrome is caused by a lack of gamma aminobutyric acid (GABA), which occurs because of antibodies against glutamic acid decarboxylase (GAD), an essential enzyme for GABA synthesis. Hence, the patients present with increased muscular activity. In this article, we will discuss two case studies of stiff-person syndrome.

Noro Psikiyatri Arsivi, 2016

Letter to the Editor Dear Editor, Stiff person syndrome (SPS) is a rare disorder characterized by continuous muscle activity causing severe rigidity and episodic spasms in axial and limb muscles (1). According to the diagnostic criteria, normal motor and sensory examination is the rule. Hyperactive deep tendon reflexes may be observed, but extensor plantar reflexes are rare 2,. Here, by presenting this case with atypical features like pyramidal signs, we aimed to review the clinical and electrophysiological signs of this rare syndrome. A 39-year-old woman was admitted to our clinic with contractions induced by psychosocial stress in her legs and lumbar region since 2 years. Permission was obtained from the patient for this report. Neurological examination revealed increased lumbar lordosis, mildly decrease strength of proximal thigh muscles, hyperactive deep tendon reflexes, and extensor plantar reflexes. Brain and whole spinal MRI were unremarkable. All biochemical and rheumatologic tests were normal. The cerebrospinal fluid (CSF) biochemistry was normal, and there were no atypical cells. The anti-glutamic acid decarboxylase (GAD) antibody serum level was high as 272 U/mL (<1.0 U/mL positive). We performed electrophysiological examinations with the preliminary diagnosis of SPS. Needle EMG showed continuous activity in dorsal paraspinal and thigh muscles. Nociceptive flexor reflex, recorded after sural nerve stimuli was in a continuous pattern in anterior tibial (AT), biceps femoris, and lumbar paraspinal (LP) muscles, was recorded by four consecutive stimulations administered from the foot base (Figure

Noropsikiyatri Arsivi-archives of Neuropsychiatry, 2016

Letter to the Editor Dear Editor, Stiff person syndrome (SPS) is a rare disorder characterized by continuous muscle activity causing severe rigidity and episodic spasms in axial and limb muscles (1). According to the diagnostic criteria, normal motor and sensory examination is the rule. Hyperactive deep tendon reflexes may be observed, but extensor plantar reflexes are rare (1,2,3,4). Here, by presenting this case with atypical features like pyramidal signs, we aimed to review the clinical and electrophysiological signs of this rare syndrome. A 39-year-old woman was admitted to our clinic with contractions induced by psychosocial stress in her legs and lumbar region since 2 years. Permission was obtained from the patient for this report. Neurological examination revealed increased lumbar lordosis, mildly decrease strength of proximal thigh muscles, hyperactive deep tendon reflexes, and extensor plantar reflexes. Brain and whole spinal MRI were unremarkable. All biochemical and rheumatologic tests were normal. The cerebrospinal fluid (CSF) biochemistry was normal, and there were no atypical cells. The anti-glutamic acid decarboxylase (GAD) antibody serum level was high as 272 U/mL (<1.0 U/mL positive). We performed electrophysiological examinations with the preliminary diagnosis of SPS. Needle EMG showed continuous activity in dorsal paraspinal and thigh muscles. Nociceptive flexor reflex, recorded after sural nerve stimuli was in a continuous pattern in anterior tibial (AT), biceps femoris, and lumbar paraspinal (LP) muscles, was recorded by four consecutive stimulations administered from the foot base