Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a patient with stiff-person syndrome and insulin-dependent diabetes mellitus with anti-glutamic acid decarboxylase (GAD) antibody, who suddenly complained of diplopia due to dysthyroid ophthalmopathy. Therapeutic efficacy of plasmapheresis and high-dose intravenous immunoglobulin was transient. After starting administration of rituximab, the patient showed obvious improvement of muscle spasms due to stiff-person syndrome and ophthalmoplegia following quick depletion of CD20-positive cells in peripheral blood. The anti-GAD and anti-thyroid antibodies decreased slowly. This drug might be a potent therapeutic option for refractory patients with stiff-person syndrome, particularly in those associated with dysthyroid ophthalmopathy.
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PMID:Successful treatment with rituximab in a patient with stiff-person syndrome complicated by dysthyroid ophthalmopathy. 2011 2

Since the first report of a high prevalence of monoclonal gammapathy (MG) in patients with peripheral neuropathy (PN), some 25 years ago, a large number of such associations have been described. Neuropathies associated with MG have heterogeneous clinical, neurophysiological, neuropathological, and hematological features. The most pertinent relationship seems to be that between distal acquired demyelinating sensory (DADS) neuropathy associated with IgM MG of unknown significance (MGUS) and the presence of serum autoantibodies reacting with myelin-associated glycoprotein (MAG). Other interesting correlations were recently reported in CANOMAD (chronic ataxic neuropathy with ophthalmoplegia, M-protein and anti-disialosyl antibodies). Patients with demyelinating neuropathy (DNP) associated with MG should be screened for malignant plasma cell dyscrasia. MG is more likely to be responsible for the neuropathy if it consists of IgM, if autoantibodies (mainly directed to MAG) are found in serum or on nerve biopsy, and if the clinical manifestations correspond to chronic distal sensory neuropathy. DNP associated with IgM MGUS sometimes responds to immunotherapy but the potential benefits must be considered in view of possible adverse effects. Rituximab, an anti-CD20 monoclonal antibody, has shown promise in this setting. DNP associated with IgG or IgA MGUS may be indistinguishable from chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), in terms of clinical and electrophysiological features and the treatment response. In the POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes), appropriate treatment can lead to a drastic improvement in the neuropathy. Patients with chronic axonal polyneuropathy associated with IgG MG should be screened for Al amyloidosis. However, most axonal polyneuropathies associated with IgG or IgM MGUS are indistinguishable from chronic idiopathic axonal polyneuropathies.
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PMID:[Polyneuropathy associated with monoclonal gammapathy: treatment perspectives]. 2012 Mar 90