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 herein report a patient with myasthenia gravis (MG) and atopic dermatitis (AD). Heretofore, there have been no reports of patients with MG and AD. Nine years ago, a 25-year-old man noted muscle weakness of upper and lower extremities on physical labor, and the muscle weakness was gradually exacerbated. Two years ago, he noted acute skin eczema with itching on his hands and feet. Neurological examination revealed mild left ptosis, facial muscle weakness and proximal muscle weakness of upper and lower extremities, but no diplopia, ophthalmoplegia or dysphagia. Although anti-nicotinic acetylcholine receptor antibody was negative, edrophonium test was positive and 54% waning in the thenar muscles was observed on Harvey-Masland test. Thus, he was diagnosed as limb-girdle type MG. IgE level in his serum elevated (1,818 U/ml). After thymectomy, the muscle weakness markedly improved as well as waning in the thenar muscles (11%). Simultaneously, AD markedly improved and serum IgE level was decreased (1,245 U/ml). Thus, MG and AD in this case may be derived from some common immunological aberrancy in the thymus.
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PMID:[A patient with limb-girdle type myasthenia gravis and atopic dermatitis, both of which improved after thymectomy]. 1096 63

Treatment decisions for ocular myasthenia gravis (OMG) should be based on symptomatology. Local, nonpharmacologic treatment of ptosis or diplopia is successful in relatively few patients, and the majority of patients require drug therapy for satisfactory resolution of their symptoms. Response to anticholinesterase agents is variable, but should always be used as the first-line agent or adjunctive therapy in the treatment of OMG. It is unknown whether early treatment of OMG with corticosteroids or other immunosuppressive agents prevents or delays the development of generalized myasthenia, although some observations support this speculation. Corticosteroids are usually necessary for adequate improvement of ophthalmoplegia or ptosis. Surgical correction of ptosis or ocular motility deficits is not recommended for most patients with OMG, because of the fluctuating nature of the deficits and the high rate of recurrent deficits following surgery. All patients with OMG should be screened for the presence of thymus tumors, and thymectomy is recommended for all patients with a thymoma. Some patients with OMG who do not harbor a thymus tumor may also benefit from thymectomy.
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PMID:Ocular Myasthenia Gravis. 1138 6

A 52-year-old patient developed an eye movement disorder first resembling a left internuclear ophthalmoplegia and subsequently a "one-and-a-half syndrome" as the presenting symptoms of ocular myasthenia gravis. No accompanying myasthenic features were present except for the fluctuation in the amplitude of dissociated nystagmus. This patient shows that an oculomotor disorder considered a typical pontine lesion may instead be caused by myasthenia gravis, even in the absence of other clinical and electrophysiologic features of neuromuscular deficit.
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PMID:Ocular myasthenia mimicking a one-and-a-half syndrome. 1172 88

Neurological manifestations of gastrointestinal disorders are described, with particular reference to those resembling multiple sclerosis (MS) on clinical or MRI grounds. Patients with celiac disease can present cerebellar ataxia, progressive myoclonic ataxia, myelopathy, or cerebral, brainstem and peripheral nerve involvement. Antigliadin antibodies can be found in subjects with neurological dysfunction of unknown cause, particularly in sporadic cerebellar ataxia ("gluten ataxia"). Patients with Whipple's disease can develop mental and psychiatric changes, supranuclear gaze palsy, upper motoneuron signs, hypothalamic dysfunction, cranial nerve abnormalities, seizures, ataxia, myorhythmia and sensory deficits. Neurological manifestations can complicate inflammatory bowel disease (e.g. ulcerative colitis and Crohn's disease) due to vascular or vasculitic mechanisms. Cases with both Crohn's disease and MS or cerebral vasculitis are described. Epilepsy, chronic inflammatory polyneuropathy, muscle involvement and myasthenia gravis are also reported. The central nervous system can be affected in patients with hepatitis C virus (HCV) infection because of vasculitis associated with HCV-related cryoglobulinemia. Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a disease caused by multiple deletions of mitochondrial DNA. It is characterized by peripheral neuropathy, ophthalmoplegia, deafness, leukoencephalopathy, and gastrointestinal symptoms due to visceral neuropathy. Neurological manifestations can be the consequence of vitamin B1, nicotinamide, vitamin B12, vitamin D, or vitamin E deficiency and from nutritional deficiency states following gastric surgery.
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PMID:Neurological manifestations of gastrointestinal disorders, with particular reference to the differential diagnosis of multiple sclerosis. 1179 74

We report a 28-year-old woman with a history of chronic immune-mediated hepatitis, in whom the simultaneous manifestation of dermatomyositis and myasthenia gravis resulted in severe neck extensor weakness and subacute respiratory insufficiency, followed by proximal muscle weakness and external ophthalmoplegia. Radiological signs of a thymoma were absent. The distinguishing clinical, electrophysiological, and biopsy findings are discussed. We suggest that an underlying immunoregulatory disorder was present, explaining the occurrence of three rare immune-mediated diseases in one patient.
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PMID:Concomitant dermatomyositis and myasthenia gravis presenting with respiratory insufficiency. 1187 Jul 2

The charts of 10 patients affected by myogenic ptosis who underwent surgical correction by means of a frontalis suspension sling using a silicone rod were reviewed. The patients included in the study were affected by ptosis secondary to myasthenia gravis (MG), chronic progressive external ophthalmoplegia (CPEO) or mitochondrial myopathy (MM). In every patient the ptosis was severe (MRD( 1) < 2 mm), with the eyelid partially or totally occluding the visual axis; levator function was poor (<5 mm), Bell's phenomenon was poor or absent and the orbicularis function was reduced. Final eyelid height, patient satisfaction and the presence of complications were our main outcome measures. Analysis of the results showed that the ptosis was corrected in every patient with a clear visual axis. One patient with absent Bell's and poor levator function had exposure keratopathy resistant to medical treatment and required surgical revision. We believe that the frontalis suspension sling is safe, effective and is the procedure of choice for patients affected by poor-function acquired ptosis. A silicone rod, because of its elasticity, is the material of choice in this selected category of patients.
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PMID:Frontalis suspension sling using a silicone rod in patients affected by myogenic blepharoptosis. 1218 12

We report a 71-year-old woman with concomitant ocular myasthenia gravis and euthyroid Graves' ophthalmopathy. Unilateral ophthalmoplegia, including ptosis, initially was responsive to edrophonium and corticosteroids, except for diplopia on upward gaze, but refractory swelling of the inferior rectus muscle and proptosis followed. Autoantibodies to acetylcholine and thyrotropin receptors were detected. Her ophthalmopathy abated after orbital irradiation in combination with systemic steroids. There may be an immunological basis for the association of ocular myasthenia gravis with euthyroid Graves' ophthalmopathy.
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PMID:Ocular myasthenia gravis associated with euthyroid ophthalmopathy. 1463 94

We contrast the phenotypes associated with hereditary acetylcholine receptor deficiency arising from mutations in either the acetylcholine receptor epsilon subunit or the endplate acetylcholine receptor clustering protein rapsyn. Mutational screening was performed by amplification of promoter and coding regions by PCR and direct DNA sequencing. We identified mutations in 37 acetylcholine receptor deficiency patients; 18 had acetylcholine receptor-epsilon mutations, 19 had rapsyn mutations. Mutated acetylcholine receptor-epsilon associated with bulbar symptoms, ptosis and ophthalmoplegia at birth, and generalized weakness. Mutated rapsyn caused either an early onset (rapsyn-EO) or late onset (rapsyn-LO) phenotype. Rapsyn-EO associated with arthrogryposis and life-threatening exacerbations during early childhood. Rapsyn-LO presented with limb weakness in adolescence or adulthood resembling seronegative myasthenia gravis. Awareness of distinct phenotypic features of acetylcholine receptor deficiency resulting from acetylcholine receptor-epsilon or rapsyn mutations should facilitate targeted genetic diagnosis, avoid inappropriate immunological therapy and, in some infants, prompt the rapid introduction of treatment that could be life saving.
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PMID:Distinct phenotypes of congenital acetylcholine receptor deficiency. 1514 36

This paper reviews a variety of abnormal eye movements which include abnormal ocular positions, restricted eye motions, impairment of conjugated eye movements, abnormal smooth pursuit, abnormal saccade, gaze-evoked nystagmus, down-beat nystagmus, internuclear ophthalmoplegia, supranuclear ophthalmoplegia, square wave jerks, roving eye movement, ocular bobbing, ocular dipping, reverse ocular bobbing, and ping-pong gaze. Abnormal eye movements occur from stroke, spinocerebellar degeneration, Parkinson disease, multiple system atrophy, progressive supranuclear palsy, multiple sclerosis, Miller Fisher syndrome, myasthenia gravis, opsoclonus-polymyoclonia syndrome, and Creutzfeldt-Jakob disease. In neurological practice, it is important to observe abnormal eye movements accurately and enthusiastically, to make appropriate anatomical and etiological diagnosis.
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PMID:[Clinical aspects of abnormal eye movements]. 1515 59

While skeletal muscles generally perform specific limited roles, extraocular muscles (EOMs) have to be responsive over a wider dynamic range. As a result, EOMs have fundamentally distinct structural, functional, biochemical and immunological properties compared to other skeletal muscles. While these properties enable high fatigue resistance and the rapid and precise control of extraocular motility, they might also explain why EOMs are selectively involved in certain disorders, such as chronic progressive external ophthalmoplegia (CPEO), myasthenia gravis and Graves' ophthalmopathy. This review first gives an overview of the novel myofibre classification in EOMs and then focuses on those properties that might explain why ophthalmoplegia should be so prominent in these disorders.
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PMID:Extraocular muscles have fundamentally distinct properties that make them selectively vulnerable to certain disorders. 1563 16


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