How common is childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital myasthenia

Parr, Jeremy; Andrew, Morag; Finnis, Maria F.; Beeson, David; Vincent, Angela; Jayawant, Sandeep

doi:10.1136/archdischild-2013-304788

Cited by 87 publications

(72 citation statements)

References 14 publications

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“…A recent study from the United Kingdom assessing the prevalence of genetic defects in childhood myasthenia revealed CHRNE, RAPSN , and DOK7 as the most common genes identified in the patients, and no AGRN mutation was detected in the study. 6 However, we acknowledge that the prevalence of subtypes in the United Kingdom may not represent the prevalence of the subtypes in Turkey.…”

Section: Discussionmentioning

confidence: 95%

A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop

Karakaya

Ceyhan‐Birsoy

Beggs

et al. 2017

Journal of Clinical Neuromuscular Disease

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Congenital myasthenic syndromes (CMS) are a heterogeneous group of diseases of the neuromuscular junction caused by compromised synaptic transmission. Clinical features include early-onset weakness of limbs and oculobulbar muscles resulting in hypotonia, bulbar paresis, ptosis, and hypoventilation. The first dropped head syndrome in children were detected in 2 patients with LMNA and SEPN1 mutations. We report a 17-month-old boy with dropped head and limb–girdle weakness, who had no ptosis or ophthalmoplegia at presentation. We performed whole exome sequencing, which revealed a homozygous missense variant in the AGRN gene c.5023G>A, p.Gly1675Ser in the LG2 domain, which is predicted to be likely disease causing by in silico tools. Agrin is known to play a critical role in the development and maintenance of the neuromuscular junction. Agrinrelated CMS is one of the rarest subtypes. Of note, our patient is the first described patient with agrinrelated CMS with dropped head phenotype.

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Section: Discussionmentioning

confidence: 95%

A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop

Karakaya

Ceyhan‐Birsoy

Beggs

et al. 2017

Journal of Clinical Neuromuscular Disease

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“…The differential here includes congenital MG syndrome and the finding of antibodies can have most important diagnostic consequences. Prevalence of congenital MG syndromes has been reported at 9.2/10 6 in children under 18 and the incidence of antibody positive MG is 1.5/10 6 per year [3]. A large majority of these children in fact are antibody positive and have auto-immune disease.…”

Section: Mg In Childrenmentioning

confidence: 98%

An update on laboratory diagnosis in myasthenia gravis

Oger

Frykman

2015

Clinica Chimica Acta

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This review describes the state of the art for the use of laboratory testing in myasthenia gravis. The review brings a detailed description of the different clinical forms of auto-immune myasthenia and of the Lambert Eaton Myasthenic Syndrome (LEMS). The stress the differences between the different forms of acquired (auto-immune) myasthenia. Then they present a summary of the different antibodies found in the disease. They insist on the advantage of the RIPA assay to measure antibodies to the acetylcholine receptor. They stress the different types of contribution of each of these antibodies to the clinical diagnosis. They also describe the methods to measure each of the specific antibodies that have recently permitted to split the diagnosis: Abs to omega-conotoxin receptor in Lambert Eaton Myasthenic Syndrome (LEMS), abs to the acetylcholine receptor (AchR) in MG, Abs to muscle specific tyrosine kinase (MuSK) in Ab negative MG, and Abs to low molecular weight receptor related low-density lipo protein-4 (LRP-4). They also broach over the striated antibodies, less frequent and clinically less useful such as anti-titin, -ryanodine, -agrin and -rapsyn. This represent a 360° view of the field as presented in Toronto in October 2014.

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“…Childhood neuromuscular junction disorders (NMJ) include both autoimmune myasthenia gravis (MG) and congenital myasthenic syndromes (CMS) [1]. CMS constitute a heterogeneous group of rare genetic diseases [2].…”

Section: Introductionmentioning

confidence: 99%

“…Postsynaptic forms are most frequent and account for approximately 75-80% of CMS patients [3]. Although there is very little data about the epidemiology of congenital myasthenic syndromes, in the UK prevalence of genetically confirmed congenital myasthenia is 9.2 per million children [1]. Positive family history does not always exclude diagnosis of autoimmune myasthenia gravis (MG), as familial MG accounts for approximately 2-3% of MG cohorts.…”

Section: Introductionmentioning

confidence: 99%

Congenital myasthenic syndrome due to mutation in CHRNE gene

Jastrzębska¹

2017

Child Neurology

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STRESZCZENIEWrodzone zespoły miasteniczne (CMS) należą do grupy chorób rzadkich, heterogennych genetycznie. Są zaliczane do chorób złącza nerwowo -mięśniowego. Wśród CMS najczęściej występują postsynaptyczne CMS. Objawy mogą być zbliżone do objawów autoimmunologicznej miastenii, a diagnostyka opiera się na badaniach genetycznych. W naszej pracy prezentujemy przypadek chłopca z wrodzonym zespołem miastenicznym spowodowanym mutacją w genie CHRNE i z dodatnim wywiadem rodzinnym w kierunku autoimmunologicznej miastenii. Słowa kluczowe: Wrodzone zespoły miasteniczne, mutacja CHRNE, miastenia gravis ABSTRACT Congenital myasthenic syndromes (CMS) belong to a group of rare genetically heterogeneous diseases that affect neuromuscular junction. The most frequent are postsynaptic CMS. Symptoms may mimic myasthenia gravis and diagnosis relies on genetic testing. We report a case of a boy with CMS due to CHRNE mutation and positive family history of autoimmune myasthenia gravis.

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How common is childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital myasthenia

Cited by 87 publications

References 14 publications

A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop

A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop

An update on laboratory diagnosis in myasthenia gravis

Congenital myasthenic syndrome due to mutation in CHRNE gene

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