Myasthenic syndrome caused by plectinopathy

Selcen, Duygu; Juel, Vern C.; Hobson‐Webb, Lisa D.; Smith, Edward C.; Stickler, David E.; Bite, Anna V.; Ohno, Kinji; Engel, Andrew G.

doi:10.1212/wnl.0b013e31820882bd

Cited by 73 publications

(67 citation statements)

References 38 publications

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“…Pathogenic mutations in PLEC result in epidermolysis bullosa simplex, a progressive myopathy , and, in some patients, myasthenic syndrome (Banwell et al, 1999;Selcen et al, 2011). We reported two cases of CMS associated with plectin deficiency (Banwell et al, 1999;Selcen et al, 2011).…”

Section: Endplate Achr Deficiency Due To Defects In Plectinmentioning

confidence: 94%

Congenital Myasthenic Syndromes - Molecular Bases of Congenital Defects of Proteins at the Neuromuscular Junction

Ohno¹,

Ito²,

Engel³

2012

Neuromuscular Disorders

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Section: Endplate Achr Deficiency Due To Defects In Plectinmentioning

confidence: 94%

Congenital Myasthenic Syndromes - Molecular Bases of Congenital Defects of Proteins at the Neuromuscular Junction

Ohno¹,

Ito²,

Engel³

2012

Neuromuscular Disorders

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“…In addition, thyroid function, anti-thyroid antibodies and connective tissue diseases associated autoantibodies were determined as well in all the cases. In the cases who presented as atypical manifestations, screening of mutations for Kearns-Sayre syndrome (KSS) and congenital myasthenic syndromes was performed and MRI of extra-ocular muscles was routinely carried out to exclude the possibility of atypical Graves's disease [9][10][11].…”

Section: Methods and Patientsmentioning

confidence: 99%

Long-term outcome of 424 childhood-onset myasthenia gravis patients

et al. 2015

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The objective of this study was to describe the clinical characteristics, outcome and factors that may affect the outcome of childhood-onset myasthenia gravis (CMG) patients in China. We have followed up 424 patients with CMG for at least 5 years at Tongji Hospital. At the end of follow-up, the outcome of all the patients was measured according to MGFA Post-intervention Status. In this study, the patients have been followed up for 9.8 ± 5.4 years. The mean onset age was 5.4 ± 3.6 years. Ocular myasthenia gravis (OMG) was the major type of CMG within 2 years after onset (95%). Thymic hyperplasia was found in 116 patients, and thymoma was confirmed in 6 patients. Acetylcholine receptor antibodies were elevated in 69.5% of the patients. All the patients were routinely treated. Thymectomy was performed in 34 patients (8.0%). At the end of follow-up, seventy-one patients (16.7%) were significantly improved, 66 patients (15.6%) remained unchanged, 53 patients (12.5%) were worsened, and 234 patients (55.2%) were exacerbated. Importantly, fifty OMG patients (12.4%) had transformed into generalized myasthenia gravis (GMG) over 2 years after onset. Thymectomy did not effectively reduce the transformation from OMG to GMG. However, GMG cases significantly benefited from the surgery. This study indicated that the cases with autoimmune CMG account for over 50% in Chinese MG population. The long-term follow-up discloses that CMG patients have a low percentage of improvement, and a high percentage of worsening and exacerbation. The treatment should not be withdrawn too early after the patients obtain complete stable remission. More studies are needed to gain better control of CMG symptoms.

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“…The neuromuscular phenotypes develop in patients with epidermolysis bullosa in childhood that, in the course of life, evolves into a progressive proximal myopathic phenotype refractory to pyridostigmine and decremental response pattern in neurophysiological studies 2,45 .…”

Section: Deficiency Of Plectinmentioning

confidence: 99%

“…An extremely rare form of CMS (less than 0,5% of all cases) was originally associated with a 20-year-old female patient with brief and abrupt attacks of muscle weakness (including bulbar palsy) and respiratory failure from birth that led to hypoxic-ischemic encephalopathy resulting from Val1442Glu mutation in the SCN4A gene (17q23.3), resulting in dysfunction of neuromuscular transmission in the unexcitability rest state 3,45 . Each acute attack typically lasts from three to 30 minutes, similar to choline acetyltransferase deficiency.…”

Section: Defects In Sodium Channels (Scn4a) (Omim #614198)mentioning

confidence: 99%

Clinical and genetic basis of congenital myasthenic syndromes

Souza

Batistella

Lino

et al. 2016

Arq. Neuro-Psiquiatr.

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Neuromuscular junction disorders represent a wide group of neurological diseases characterized by weakness, fatigability and variable degrees of appendicular, ocular and bulbar musculature involvement. Its main group of disorders includes autoimmune conditions, such as autoimmune acquired myasthenia gravis and Lambert-Eaton syndrome. However, an important group of diseases include congenital myasthenic syndromes with a genetic and sometimes hereditary basis that resemble and mimick many of the classic myasthenia neurological manifestations, but also have different presentations, which makes them a complex clinical, therapeutic and diagnostic challenge for most clinicians. We conducted a wide review of congenital myasthenic syndromes in their clinical, genetic and therapeutic aspects.

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Myasthenic syndrome caused by plectinopathy

Cited by 73 publications

References 38 publications

Congenital Myasthenic Syndromes - Molecular Bases of Congenital Defects of Proteins at the Neuromuscular Junction

Congenital Myasthenic Syndromes - Molecular Bases of Congenital Defects of Proteins at the Neuromuscular Junction

Long-term outcome of 424 childhood-onset myasthenia gravis patients

Clinical and genetic basis of congenital myasthenic syndromes

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