Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026837 (muscle rigidity)
 1,077 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Progressive encephalomyelitis with rigidity and myoclonus (PEWR) is a rare neurological disorder, characterised by muscular rigidity, painful spasms, myoclonus, and evidence of brain stem and spinal cord involvement. A 73-year-old white man was admitted with a 10-day history of painful muscle spasms and continuous muscle rigidity on his left lower limb. He had involuntary spasms on his legs and developed encephalopathy with cranial nerves signs and long tract spinal cord symptomatology. Brain CT scan and spinal MRI were normal. The CSF showed lymphocytic pleocytosis and no other abnormalities. EMG showed involuntary muscle activity with 2-6 seconds of duration, interval of 30-50 ms and a frequency of 2/second in the left lower limb. Anti-GAD antibodies were detected in the blood. We detected radiological signs of lung cancer during the follow-up, which proved to be an oat cell carcinoma. The patient died two weeks after the diagnosis of the cancer.
 ...
PMID:Progressive encephalomyelitis with rigidity: a paraneoplastic presentation of oat cell carcinoma of the lung. Case report. 1527 62

The prime goal of this paper is to offer an overview of main scientific points in epidemiology, genetics, pathogenesis, clinical course and therapeutic strategies in stiff person syndrome (SPS). This syndrome is characterized by progressive muscle rigidity and painful muscle spasms. Three major forms of SPS are described, according to the pathophysiologic basis, autoimmune, paraneoplastic and idiopathic SPS. In autoimmune form of SPS the antibodies are specific for an enzyme (glutamic acid decarboxylase, GAD). If the paraneoplastic form takes place, the antibodies may be specific for presynaptic (amphyphysin) or the postsynaptic protein (gephyrin). The SPS diagnosis should be based on clinical, laboratory and electromyoneurographic criteria, according to Gordon and Lorish. The therapeutic approaches are focused on symptomatic therapy managing the muscle spasm and on possible immunomodulatory procedures to attenuate an autoimmune reaction. Two cases of SPS are reported in the Republic Croatia since 2005. Although it is a rare medical condition, SPS is of clinical importance, especially because it may be the first sign of an underlying undiagnosed malignant disease or if the anesthesia is necessary in SPS patient.
 ...
PMID:[Stiff person syndrome (Moersch-Woltman)]. 2054 Apr 39

Stiff person syndrome (SPS) is a disabling autoimmune central nervous system disorder characterized by progressive muscle rigidity and gait impairment with superimposed painful spasms that involve axial and limb musculature, triggered by heightened sensitivity to external stimuli. Impaired synaptic GABAergic inhibition resulting from intrathecal B-cell-mediated clonal synthesis of autoantibodies against various presynaptic and synaptic proteins in the inhibitory neurons of the brain and spinal cord is believed to be an underlying pathogenic mechanism. SPS is most often idiopathic, but it can occur as a paraneoplastic condition. Despite evidence that anti-GAD and related autoantibodies impair GABA synthesis, the exact pathogenic mechanism of SPS is not fully elucidated. The strong association with several MHC-II alleles and improvement of symptoms with immune-modulating therapies support an autoimmune etiology of SPS. In this review, we discuss the clinical spectrum, neurophysiological mechanisms, and therapeutic options, including a rationale for agents that modulate B-cell function in SPS.
 ...
PMID:Autoimmune stiff person syndrome and related myelopathies: understanding of electrophysiological and immunological processes. 2298 10

We present a case of a 65-year-old African American male, immunosuppressed on Tacrolimus, who initially presented with cerebellar ataxia and rapidly developed Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM) with positive anti-glutamic acid decarboxylase (GAD65) antibodies, no underlying malignancy, and normal neuroimaging. PERM is a rare spectrum of Stiff Person Syndrome (SPS), which is strongly associated with anti-GAD antibodies and characterized by flare-ups and remissions of encephalopathy, myelopathy and rigidity with myoclonus. PERM is diagnosed clinically and has been successfully treated with both Intravenous Immunoglobulin (IVIg) and plasmapheresis. Our patient was successfully treated with IVIg. On day 14 after starting IVIg treatment, his neurological symptoms started to improve and ultimately returned to baseline.
 ...
PMID:Anti-glutamic acid decarboxylase (GAD) positive cerebellar Ataxia with transitioning to progressive encephalomyelitis with rigidity and myoclonus (PERM), responsive to immunotherapy: A case report and review of literature. 3101 81