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)

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

Neuromuscular junction disorders in children are either genetic, such as congenital myasthenic syndrome, or autoimmune with circulating antibodies most commonly against acetylcholine receptors. There is limited experience recognizing and treating children with myasthenia associated with muscle-specific tyrosine kinase antibodies. We report a seven-year-old child with intermittent esotropia since age 3 months, and two years of progressive and severe diplopia, dysarthria, dysphagia, and facial weakness. Acetylcholine receptor antibodies and genetic testing for congenital myasthenic syndrome were negative. Muscle specific tyrosine kinase antibodies were significantly elevated. Ophthalmoplegia and bulbar weakness were refractory to treatment with acetylcholinesterase inhibitors, corticosteroids and IVIg but completely resolved following treatment with rituximab. Her neurologic examination remained normal at the most recent follow-up, 15 months after initiation of rituximab. Children with MuSK myasthenia, like adults, can respond to rituximab despite long standing disease and failure to improve on other immunosuppressant medications.
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PMID:Selective response to rituximab in a young child with MuSK-associated myasthenia gravis. 2599 11

Miller Fisher syndrome (MFS), variant of acute inflammatory demyelinating polyradiculoneuropathy, is recognized as clinical triad (ophthalmoplegia-ataxia-areflexia). Ganglioside antibodies play an important role in the pathogenesis of acute polyradiculoneuropathy including MFS. To our knowledge, there has been no report of MFS presenting with atypical alternating ptosis or with concurrent elevation of serum GD1 and asialo-GM1 antibody titers, and negative titers of GQ1b antibody such as our patient. Our objective is to report MFS with unusual symptoms and to share our diagnostic approach. We report a rare case of MFS presenting with alternating eyelid ptosis, paresthesia, and ataxia after a respiratory infection. Initial neurological examination revealed left eyelid ptosis, hyporeflexia, positive Romberg sign, and ataxia. The ice pack test was negative. Three days later, contralateral ptosis was observed, associated with areflexia and worsened ataxia. However, there was significant improvement of the previous left eyelid ptosis. Serology revealed elevated asialo-GM1 and GD1b antibodies. Acetylcholine receptor antibodies were negative. Cerebral spinal fluid revealed elevated IgG index. Nerve conduction studies (NCS) performed four days after the onset of symptoms showed normal nerve conduction velocities and F-waves, and absent bilateral H-reflexes. Repetitive nerve stimulation (3 Hz) showed no decrement of compound muscle action potentials. Trial with a single dose of pyridostigmine showed no clinical improvement. The symptoms resolved without intervention. NCS 18 days after onset of symptoms showed mildly prolonged F-waves and absent H-reflexes. This case highlights an atypical presentation of MFS and raises the awareness of a rare autoantibody associated with it.
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PMID:Alternating ptosis associated with asialo-GM1 and GD1b antibodies. 2671 Sep 25