Elderly-onset familial myasthenia gravis in two siblings

Hirunagi, Tomoki; Tsujikawa, Koyo; Hasegawa, Yasuhiro; Mano, Kazuo; Katsuno, Masahisa

doi:10.1016/j.nmd.2016.03.005

Cited by 3 publications

(2 citation statements)

References 14 publications

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“…Familial autoimmune MG is extremely rare and has been linked to specific genes . Mother's MG predisposes also for other autoimmune disorders and the lifetime risk increases 10–20‐fold in their children . However, monozygotic twins can be discordant for MG, illustrating the importance of non‐genetic factors .…”

Section: Hereditymentioning

confidence: 99%

Maternal myasthenia gravis represents a risk for the child through autoantibody transfer, immunosuppressive therapy and genetic influence

Gilhus

Hong

2018

Euro J of Neurology

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Females with myasthenia gravis (MG) worry about their disease having negative consequences for their children. Autoimmune disease mechanisms, treatment and heredity could all have an impact on the child. This is a subject review where Web of Science was searched for relevant keywords and combinations. Controlled and prospective studies were included, and also results from selected and unselected patient cohorts, guidelines, consensus papers and reviews. Neonatal MG with temporary muscle weakness occurs in 10% of newborn babies where the mother has MG, due to transplacental transfer of antibodies against acetylcholine receptor (AChR), muscle-specific kinase (MuSK) or lipoprotein receptor-related protein 4 (LRP4). Arthrogryposis and fetal AChR inactivation syndrome with contractures and permanent myopathy are rare events caused by mother's antibodies against fetal type AChR. The MG drugs pyridostigmine, prednisolone and azathioprine are regarded as safe during pregnancy and breastfeeding. Methotrexate, mycophenolate mofetil and cyclophosphamide are teratogenic. Mother's MG implies at least a 10-fold increased risk for MG and other autoimmune diseases in the child. MG females should receive specific information about pregnancy and giving birth. First-line MG treatments should usually be continued during pregnancy. Intravenous immunoglobulin and plasma exchange represent safe treatments for exacerbations. Neonatal MG risk means that MG women should give birth at hospitals experienced in neonatal intensive care. Neonatal MG needs supportive care, rarely also acetylcholine esterase inhibition or intravenous immunoglobulin. Women with MG should be supported in their wish to have children.

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Section: Hereditymentioning

confidence: 99%

Maternal myasthenia gravis represents a risk for the child through autoantibody transfer, immunosuppressive therapy and genetic influence

Gilhus

Hong

2018

Euro J of Neurology

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“… 20 Familial MG tends to occur at a younger age, but some also develop late-onset MG cases (with an onset age of ≥65 years). 21 In general, the incidence of younger-onset MG is higher than elderly onset MG. 20 However, its incidence has shifted to an advanced age group due to some environmental factors. 22 In our study, age-specific MG prevalence was generally higher in the first-degree relatives of MG patients than in the general population.…”

Section: Discussionmentioning

confidence: 99%

Familial aggregation of myasthenia gravis in affected families: a population-based study

Liu

Kuo

See

et al. 2017

CLEP

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IntroductionMyasthenia gravis (MG) is clinically heterogeneous and can be life-threatening if bulbar or respiratory muscles are involved. However, relative contributions of genetic, shared, and nonshared environmental factors to MG susceptibility remain unclear. The aim of this study was to examine the familial aggregation and heritability of MG and the relative risks (RRs) of other autoimmune diseases in the relatives of patients with MG.MethodsA population-based family study using the Taiwan National Health Insurance (NHI) Database was conducted. Participants included all individuals (N=23,422,955) who were actively registered in the NHI Database in 2013, 15,066 of whom had at least one first-degree relative with MG. We identified 8,638 parent–child relationships, 3,279 with an affected offspring, 3,134 with affected siblings, and 26 with affected twins. Prevalence and RRs of MG and other autoimmune diseases in the relatives of patients as well as the relative contributions of heritability, shared, and nonshared environmental factors to MG susceptibility were measured.ResultsRRs (95% confidence intervals [CIs]) for MG were 17.85 (8.71–36.56) for patients’ siblings, 5.33 (2.79–10.18) for parents, 5.82 (3.03–11.16) for offspring, and 1.42 (0.20–10.10) for spouses without genetic similarities. RRs (95% CIs) in individuals with a first-degree relative with MG were 2.18 (1.53–3.12) for systemic lupus erythematosus, 1.73 (1.09–2.74) for primary Sjögren’s syndrome, 1.90 (1.66–2.18) for autoimmune thyroid disease, and 1.68 (1.22–2.30) for rheumatoid arthritis. Accountability for the phenotypic variance of MG was 82.1% for familial transmission and 17.9% for nonshared environmental factors.ConclusionIndividual risks of MG and other autoimmune diseases are increased in the relatives of patients with MG. Familial transmission of MG was estimated to be 82.1%.

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Whole-exome sequencing and human leukocyte antigen analysis in familial myasthenia gravis with thymoma: Case report and literature review

Nakamura

Sato

Miyano

et al. 2021

Clinical Neurology and Neurosurgery

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Elderly-onset familial myasthenia gravis in two siblings

Cited by 3 publications

References 14 publications

Maternal myasthenia gravis represents a risk for the child through autoantibody transfer, immunosuppressive therapy and genetic influence

Maternal myasthenia gravis represents a risk for the child through autoantibody transfer, immunosuppressive therapy and genetic influence

Familial aggregation of myasthenia gravis in affected families: a population-based study

Whole-exome sequencing and human leukocyte antigen analysis in familial myasthenia gravis with thymoma: Case report and literature review

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