Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014070 (encephalomyelitis)
 13,017 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Four patients had a chronic progressive disorder beginning in middle age and involving stiffness and painful spasms of the lower limbs. Spasms were spontaneous, reflex, and induced by voluntary movement. Patients had rigidity and abnormal postures of one or both legs. There was no truncal rigidity or exaggerated lumbar lordosis. Despite the presence of symptoms for up to 16 years, symptoms and signs of brainstem, pyramidal, and sensory dysfunction were absent. Sphincter disturbance developed after many years in one patient. Extensive investigation, including imaging of the whole neuroaxis, failed to disclose a cause. Anti-GAD antibodies were absent. Baclofen and diazepam led to some reduction in the painful spasms, but patients remained disabled by the condition. There were four core electrophysiological features. (1) Continuous motor unit activity was present at rest in at least one limb muscle. (2) Spasms tended to involve the repetitive grouped discharge of motor units. (3) Cutaneomuscular reflexes were abnormal. (4) There was little or no electrophysiological evidence of long tract disturbance. The patients form a characteristic syndrome, separate from the stiff man syndrome, and distinguishable from encephalomyelitis with rigidity. It is suggested that the condition is due to a chronic spinal interneuronitis.
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PMID:The stiff leg syndrome. 1045 77

A 37-year-old female presented with progressive encephalomyelitis with rigidity for a period of about three months. Spasms began with several minutes of paroxysmal painful muscle stiffness in the left upper limb, followed by pain and muscle spasms in the upper limbs, shoulders, neck and back. The paroxysmal painful spasms were easily evoked by light touches and startling. The patient had contracture in the upper limbs and difficulty in relaxing the muscles. She also developed brain stem signs such as left sixth nerve palsy. The serum antinuclear antibody was positive (1 : 160). The cerebrospinal fluid examination revealed mild pleocytosis and protein elevation. Brainstem MRI, cervical MRI, and electroencephalography were normal. Surface electromyography in the arm and neck muscles showed continuous motor unit discharge elicited by passive movement of the right arm. Diazepam and baclofen were minimally beneficial. After treatment with intravenous injection of high-dose methylprednisolone and sequential oral prednisolone administration, the patient showed substantial improvement. This disorder may be part of a clinical spectrum that has an underlying autoimmune basis.
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PMID:[A case report of steroid-responsive progressive encephalomyelitis with rigidity showing muscle stiffness limited to the upper body]. 986 16

Rigidity in the setting of continuous motor unit activity at rest can be caused by a variety of central and peripheral conditions. A central origin is suggested by the presence of painful reflex spasms. Focal spinal lesions and infective causes are relatively easily excluded through imaging, microbiological and serological studies. There then remain a group of patients who may have the classical 'stiff-man syndrome' or a related syndrome. When strict diagnostic criteria are used, patients with the stiff man syndrome uniformly have axial rigidity, and about 90% are found to have antibodies against glutamic acid decarboxylase. Treatment response and prognosis are excellent. Stiff persons with 'plus' signs, particularly those with rigidity of a distal limb, are unlikely to have the classical stiff man syndrome. They have a poorer treatment response and prognosis. Some have a paraneoplastic aetiology, while a non-malignant autoimmune basis seems likely in others. Those in whom post-mortem pathology findings are available usually are seen to have had an encephalomyelitis with prominent involvement of the grey matter. Clinically, stiff persons with 'plus' signs may be divided into three groups according to the aggressiveness of the pathology and its relative distribution. Encephalomyelitis with rigidity follows a relentless subacute course, leading to death within 3 years. Chronic cases may present with predominantly brainstem involvement, including generalised myoclonus (the 'jerking stiff person syndrome') or spinal cord involvement, dominated by stiffness and spasm in one or more limbs (the 'stiff limb syndrome').
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PMID:The stiff man and stiff man plus syndromes. 1046 Apr 39

The stiff-man syndrome (SMS) is characterised by rigidity and spasm of predominantly axial and proximal limb muscles. The cause of the condition is unknown but the finding of antibodies to glutamic acid decarboxylase (GAD) in approximately 60% of patients has suggested an autoimmune basis. Pathological findings are limited to a small number of cases which are reviewed in this paper. In some, evidence of an inflammatory aetiology has been found, and there appears to be overlap with progressive encephalomyelitis with rigidity (PER) which may present with a similar clinical picture. The spontaneous muscle activity in SMS and PER is of central origin, related to release of polysynaptic spinal and brainstem reflexes. The SMS is readily distinguished from the continuous muscle activity, spasm and cramps of Isaac's syndrome and neuromyotonia which originate in the peripheral nervous system. Fasciculations, myokymia, myotonia and complex repetitive discharges are characteristic of these peripheral neuromuscular disorders.
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PMID:The stiff-man syndrome and related disorders. 1148 80

Multiple sclerosis is an autoimmune inflammatory demyelinating disease of the central nervous system characterized by dissemination of the lesions in time and space. While tremor is frequently seen in patients with multiple sclerosis, other movement disorders such as parkinsonism, dystonia, chorea, ballism, paroxysmal dystonia, paroxysmal chorea, myoclonus, tourettism, restless leg syndrome and hemifacial spasm are less frequently reported. In this systematic review of the literature, we describe the different movement disorders reported in patients with multiple sclerosis and attempt to characterize their relation with the underlying demyelinating process. We also summarize the reports of movement disorders described in other demyelinating diseases such as neuromyelitis optica, acute disseminated encephalomyelitis and central pontine myelinolysis.
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PMID:Movement disorders in multiple sclerosis and other demyelinating diseases. 2352 28

The extracellular matrix polysaccharide hyaluronan (HA) accumulates at sites of autoimmune inflammation, including white matter lesions in multiple sclerosis (MS), but its functional importance in pathogenesis is unclear. We have evaluated the impact of 4-methylumbelliferone (4-MU), an oral inhibitor of HA synthesis, on disease progression in the experimental autoimmune encephalomyelitis (EAE) mouse model of MS. Treatment with 4-MU decreases the incidence of EAE, delays its onset, and reduces the severity of established disease. 4-MU inhibits the activation of autoreactive T cells and prevents their polarization toward a Th1 phenotype. Instead, 4-MU promotes polarization toward a Th2 phenotpye and induction of Foxp3(+) regulatory T cells. Further, 4-MU hastens trafficking of T cells through secondary lymphoid organs, impairs the infiltration of T cells into the CNS parenchyma, and limits astrogliosis. Together, these data suggest that HA synthesis is necessary for disease progression in EAE and that treatment with 4-MU may be a potential therapeutic strategy in CNS autoimmunity. Considering that 4-MU is already a therapeutic, called hymecromone, that is approved to treat biliary spasm in humans, we propose that it could be repurposed to treat MS.
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PMID:Hyaluronan synthesis is necessary for autoreactive T-cell trafficking, activation, and Th1 polarization. 2678 61

Painful tonic spasm (PTS) is a common yet debilitating symptom in patients with neuromyelitis optica spectrum disorder (NMOSD), especially those with longitudinally extensive transverse myelitis. Although carbamazepine is an effective treatment, it poses the risk of severe adverse reactions, such as Steven-Johnson syndrome (SJS). In this case report, we describe an NMOSD patient with severe PTS suffering from carbamazepine-induced SJS who responded well to cannabis extract. Since cannabinoids can ameliorate spasticity in an experimental autoimmune encephalomyelitis model through cannabinoid 1 (CB1) receptor activation, cannabis extract which includes delta-9-tetrahydrocannabinol (THC) is a potential treatment option for PTS in NMOSD patients.
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PMID:Cannabis extract for the treatment of painful tonic spasms in a patient with neuromyelitis optica spectrum disorder: A case report. 3255 1