Childhood-onset anti-MuSK antibody positive myasthenia gravis demonstrates a distinct clinical course

Takahashi, Yumi; Sugiyama, Minako; Ueda, Yuki; Itoh, Tokuo; Yagyu, Kazuyori; Shiraishi, Hiroaki; Ukeba-Terashita, Yukayo; Nakanishi, Masayoshi; Nagashima, Tomomi; Imai, Tomihiro; Motomura, Masakatsu; Saitoh, Shinji

doi:10.1016/j.braindev.2011.12.014

Cited by 19 publications

(20 citation statements)

References 10 publications

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“…MG with MuSK antibodies is rarely described in pediatric cohorts, and appears to present differently from MG with AChR antibodies. Such disease typically affects girls, with predominantly generalized and bulbar symptoms, as we observed in 3 of our patients.…”

Section: Discussionmentioning

confidence: 97%

“…We found a much higher rate in children (40%), particularly in those with prepubertal and ocular JMG, which is consistent with other studies. 10,28,29,36 MG with MuSK antibodies is rarely described in pediatric cohorts, [37][38][39] and appears to present differently from MG with AChR antibodies. Such disease typically affects girls, 40 with predominantly generalized and bulbar symptoms, 41,42 as we observed in 3 of our patients.…”

Section: Discussionmentioning

confidence: 99%

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Clinical features and evolution of juvenile myasthenia gravis in a French cohort

et al. 2017

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Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

Clinical features and evolution of juvenile myasthenia gravis in a French cohort

et al. 2017

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“…MuSK-positive myasthenia gravis is very rare in children. 21 All of the 12 children in this cohort tested for MuSK antibodies were negative. Additional diagnostic testing, including Tensilon and electrodiagnostic testing, may be complicated in pediatric patients.…”

Section: Discussionmentioning

confidence: 99%

Clinical Characteristics of Pediatric Myasthenia: A Surveillance Study

et al. 2013

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OBJECTIVE: To evaluate the incidence, clinical features, diagnostic, and treatment trends of pediatric myasthenia in Canada. METHODS: Through established Canadian Pediatric Surveillance Program methodology, physicians were anonymously surveyed for cases of pediatric myasthenia using a standardized clinical questionnaire containing deidentified data. Inclusion criteria were any child <18 years old with ≥1 of the following: (1) fluctuating ptosis or extraocular weakness, (2) skeletal muscle weakness or fatigue, and (3) any of the following supportive tests: clinical response to acetylcholinesterase inhibitor, positive antibodies, abnormal slow repetitive nerve stimulation, or single-fiber electromyography. RESULTS: In 2 years of surveillance, 57 confirmed cases were reported. There were 34 generalized and 18 ocular reports of juvenile myasthenia gravis plus 5 congenital myasthenic syndrome cases. There were 14 incident cases in 2010 and 6 in 2011. Age of onset ranged from “birth” to 17 years for the generalized form compared with 18 months to 11 years for the ocular subtype. Positive acetylcholine receptor titers were found in 22 (67%) of 33 generalized cases and 8 (44%) of 18 ocular patients. Of patients started on pyridostigmine, improvement was noted in 33 (100%) of 33 generalized cases and 15 (88%) of 17 ocular cases. CONCLUSIONS: This study represents the largest descriptive series of pediatric myasthenia in North America and provides valuable information about clinical characteristics. A high index of suspicion is important for this treatable disease. Children generally respond promptly to readily available therapies.

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“…11,31,32 Spontaneous remissions have been demonstrated, probably attributable to age-dependent impairment of neuromuscular junction function by MUSK antibodies. 33 Clinical features peculiar to MUSK-antibody MG include focal involvement of facial, bulbar, neck and respiratory muscles, lack of thymic abnormalities, worse outcome, lower remission rates, poor response to cholinesterase inhibitors and immunosuppressants and good response to plasmapheresis. 4,5,20,30,34,35 Outcome in MUSK-antibody MG is poor compared to AChR-antibody MG. 20,27,36 In contrast, a good response to treatment in all MUSK-antibody MG was reported among the Thai-Chinese.…”

Section: Discussionmentioning

confidence: 99%

“…78 tested) of the entire cohort and 22.2% (6/27 tested) of AChR antibody-negative group had MUSK antibody. Spontaneous remissions have been demonstrated, probably attributable to age-dependent impairment of neuromuscular junction function by MUSK antibodies 33. 3,4,29,30 They are common among African-Americans, but in a study by Pasnoor et al, 66% of subjects with MUSK-antibody MG were Caucasians.…”

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confidence: 99%

Autoantibodies in acquired myasthenia gravis: Clinical phenotype and immunological correlation

et al. 2019

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Background: Data on antibody profile in myasthenia gravis (MG) from India are limited. Objectives: To investigate antibody profile in patients with MG and their clinical correlates. Patients and Methods: Patients of MG (n = 85, M:F::1.1:1, mean age: 39.29 ± 17.3 years, mean symptom duration: 72.94 ± 91.8 months) were evaluated for clinical features, MG foundation of America (MGFA) score, response to treatment, and outcome at last follow-up. Antibodies to acetylcholine receptor (AChR), muscle-specific kinase (MUSK), titin and ryanodine receptor (RYR) were analysed using ELISA.Results: Based on the regional distribution of weakness, the cohort could be categorized as: generalized: 60, ocular: 16 and oculo-bulbar: 9. Sixty patients were followed up for a mean duration of 26.74 ± 13.8 months. Outcome at last follow-up was as follows: remission-22, no remission-33 and dead-5. AChR and MUSK antibodies were detected in 58 and 8 patients, respectively. Frequency of generalized MG, worse MGFA score during the disease course and thymomatous histology significantly correlated with presence of AChR-antibodies, though outcome at last followup was comparable between AChR-antibody positive and negative groups. Patients with MUSK antibodies had oculo-bulbar or generalized MG and frequent respiratory crisis, but majority improved or remitted with treatment. Titin antibodies were detected in 31.8% and RYR antibodies in 32.9%. Their presence did not correlate with age at onset of MG, severity or presence of thymoma. Conclusion: This report highlights the spectrum of antibodies in MG in an Indian cohort. AChR-antibody positivity correlated with clinical severity. Outcome was good in majority of MUSK antibody-positive MG. The role of other antibodies, complementary vs epiphenomenon, remains open. K E Y W O R D S acetylcholine receptor, muscle-specific kinase, myasthenia gravis, ryanodine receptor, titin | 429 NAGAPPA et Al.

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Childhood-onset anti-MuSK antibody positive myasthenia gravis demonstrates a distinct clinical course

Cited by 19 publications

References 10 publications

Clinical features and evolution of juvenile myasthenia gravis in a French cohort

Clinical features and evolution of juvenile myasthenia gravis in a French cohort

Clinical Characteristics of Pediatric Myasthenia: A Surveillance Study

Autoantibodies in acquired myasthenia gravis: Clinical phenotype and immunological correlation

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