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)

Two brothers with congenital myasthenia gravis are described. In both, ptosis and ophthalmoplegia responded poorly to oral anticholinesterase therapy and to thymectomy. The brothers had two different HLA haplotypes and neither had the HLA-A1-B8-DW3 haplotypes which are commonly associated with myathenia gravis in adult-onset cases.
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PMID:Congenital myasthenia gravis: clinical and HLA studies in two brothers. 101 Oct 24

A clinical study of 50 Southern Chinese myasthenic children observed for periods of two to 18 years (six years on average) revealed manifestations different from those of caucasian patients. Onset was early, at an average of 4.8 years. 82 per cent had ocular myasthenia. Ophthalmoplegia followed ptosis between three months and 10 years later. Additional facial and isolated limb-muscle fatigability developed in only 6 per cent within three months to 3 1/2 years. Only 12 per cent developed generalized myasthenia. Although extension from ocular to the generalized form did not occur later than 20 months after onset, a deterioration in ocular symptoms, without extension into generalized myasthenia, occurred in nine of 18 children during adolescence. Ptosis and generalized myasthenia responded better to anticholinesterase and/or prednisone. Ophthalmoplegia was difficult to treat. The natural clinical course was benign. Spontaneous remission occurred in 62 per cent of cases, but 54.8 per cent of these relapsed, all confined to ocular muscles. Although there was no familial occurrence of myasthenia gravis, an association was found between myasthenia and thyroid disorders in some patients and their relatives. The association with HLA BW46 antigen was striking. Acetylcholine receptor antibodies were absent in the majority, but mildly elevated titres were found in three of five patients whose ocular symptoms deteriorated during adolescence, without extension into generalized myasthenia.
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PMID:Myasthenia gravis in Chinese children. 651 56

A 62-year-old female had severe progressive ophthalmoplegia associated with facial, pharyngeal and limb muscle involvement. When 40, she had undergone surgery for bilateral cataract present for about 20 years. Biopsies of skeletal muscles indicated myopathy; histochemistry and electron microscopy gave evidence of abnormal mitochondria in type I fibres. Bilateral cataract needing surgical treatment at 32 was the prominent symptom in her daughter, then with only mild facial weakness. Despite absence of ophthalmoplegia, similar pathological changes were observed in an inferior oblique muscle. The child of the former, a 10-year-old clinically healthy boy, had been surgically treated for a bilateral cataract at the age of 3. As indicated by a review of literature, cataract is not an exceptional occurrence in this particular type of ocular myopathy and therefore should be included within its multisystem associations. The same HLA haplotype (A2-B21) was found in the three patients.
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PMID:Familial mitochondrial myopathy with cataract. 736 99