Trouble at the junction: When myopathy and myasthenia overlap

Nicolau, Stefan; Kao, Justin; Liewluck, Teerin

doi:10.1002/mus.26676

Cited by 40 publications

(27 citation statements)

References 136 publications

(212 reference statements)

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“…Family 11 showed an autosomal dominant inheritance pattern and decremental RNS, both of which are in accordance with the hallmarks of SCCMS, but repetitive compound muscle action potential and endplate potential analysis of AChR were still needed. In patient 31, the childhood onset, fluctuating limb‐girdle myasthenia, decremental RNS, TAs within myofibers, and good response to AChEI indicated the possibility of TA‐related CMS, similar to that of GFPT1 , DPAGT1 , or ALG2 mutations 18–19 . We therefore still considered this patient’s diagnosis as CMS even with only one GFPT1 heterozygous mutation, since pathogenic non‐coding variants could be missed in next‐generation sequencing.…”

Section: Discussionmentioning

confidence: 99%

Congenital myasthenic syndrome in China: genetic and myopathological characterization

Zhao

Liu

Bian

et al. 2021

Ann Clin Transl Neurol

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Objective We aimed to summarize the clinical, genetic, and myopathological features of a cohort of Chinese patients with congenital myasthenic syndrome, and follow up on therapeutic outcomes. Methods The clinical spectrum, mutational frequency of genes, and pathological diagnostic clues of various subtypes of patients with congenital myasthenic syndrome were summarized. Therapeutic effects were followed up. Results Thirty‐five patients from 29 families were recruited. Ten genes were identified: GFPT1 (27.6%), AGRN (17.2%), CHRNE (17.2%), COLQ (13.8%), GMPPB (6.9%), CHAT, CHRNA1, DOK7, COG7, and SLC25A1 (3.4% each, respectively). Sole limb‐girdle weakness was found in patients with AGRN (1/8) and GFPT1 (7/8) mutations, whereas distal weakness was all observed in patients with AGRN (6/8) mutations. Tubular aggregates were only found in patients with GFPT1 mutations (5/6). The patients with GMPPB mutations (2/2) had decreased alpha‐dystroglycan. Acetylcholinesterase inhibitor therapy resulted in no response or worsened symptoms in patients with COLQ mutations, a diverse response in patients with AGRN mutations, and a good response in patients with other subtypes. Albuterol therapy was effective or harmless in most subtypes. Therapy effects became attenuated with long‐term use in patients with COLQ or AGRN mutations. Interpretation The genetic distribution of congenital myasthenic syndrome in China is distinct from that of other ethnic origins. The appearance of distal weakness, selective limb‐girdle myasthenic syndrome, tubular aggregates, and decreased alpha‐dystroglycan were indicative of the specific subtypes. Based on the follow‐up findings, we suggest cautious evaluation of the long‐term efficacy of therapeutic agents in congenital myasthenic syndrome.

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Section: Discussionmentioning

confidence: 99%

Congenital myasthenic syndrome in China: genetic and myopathological characterization

Zhao

Liu

Bian

et al. 2021

Ann Clin Transl Neurol

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“…Moreover, ir-myocarditis also needed to be studied in patients with irMG. Both may lead to ventilation dependence or a fatal event (65)(66)(67)(68)(69). Early detection and treatment for vital organ dysfunction such as timely intubation for respiratory failure, pacemaker implantation for fatal arrhythmia, and vasopressor and even extracorporeal membrane oxygenation for cardiogenic shock should be considered if clinically needed and available in addition to immunosuppressants (70).…”

Section: Discussionmentioning

confidence: 99%

Immune Checkpoint Inhibitor-Induced Myasthenia Gravis

et al. 2020

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The development of immune checkpoint inhibitors (ICIs) has been a major breakthrough in cancer immunotherapy. The increasing use of ICIs has led to the discovery of a broad spectrum of immune-related adverse events (irAEs). Immune-related myasthenia gravis (irMG) is a rare but life-threatening irAE. In this review, the clinical presentations of irMG are described and the risk of irMG-related mortality is examined using information from relevant studies. In 47 reported cases of irMG with clear causes of mortality, irMG appeared to be a distinct category of neuromuscular disorders and differed from classical MG in terms of its demographic patient characteristics, pathogenesis, serology profile, response to treatment, associated complications, and prognosis. Because of the high mortality of irMG, measures to increase the vigilance of medical teams are necessary to ensure the timely identification of the signs of irMG and early treatment, particularly in the early course of ICI therapy. The diagnostic plans should be comprehensive and include the evaluation of other organ systems, such as the dermatological, gastrointestinal, respiratory, neuromuscular, and cardiovascular systems, in addition to the traditional diagnostic tests for MG. Treatment plans should be individualized on the basis of the extent of organ involvement and clinical severity. Additional therapeutic studies on irMG in the future are required to minimize irAE-related mortality and increase the safety of patients with cancer in the ICI era.

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“…RNS can help facilitate the diagnosis of disorders such as transient neonatal myasthenia gravis or congenital myasthenic syndrome (CMS). Many infants and children with disorders of neuromuscular transmission may present with weakness and breathing or feeding difficulty, which can show clinical and electrophysiological overlap with myopathies, including several inherited neuromuscular diseases . As such, a careful interrogation of the function of the neuromuscular junction is an important consideration.…”

Section: Resultsmentioning

confidence: 99%

Utility and practice of electrodiagnostic testing in the pediatric population: An AANEM consensus statement

et al. 2020

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Nerve conduction studies and needle electromyography, collectively known as electrodiagnostic (EDX) studies, have been available for pediatric patients for decades, but the accessibility of this diagnostic modality and the approach to testing vary significantly depending on the physician and institution. The maturation of molecular diagnostic approaches and other diagnostic technologies such as neuromuscular ultrasound indicate that an analysis of current needs and practices for EDX studies in the pediatric population is warranted. The American Association of Neuromuscular & Electrodiagnostic Medicine convened a consensus panel to perform literature searches, share collective experiences, and develop a consensus statement. The panel found that electrodiagnostic studies continue to have high utility for the diagnosis of numerous childhood neuromuscular disorders, and that standardized approaches along with the use of high-quality reference values are important to maximize the diagnostic yield of these tests in infants, children, and adolescents. K E Y W O R D S adolescents, children, electrodiagnostic medicine, electromyography, infants, neuromuscular disorders, pediatric

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Trouble at the junction: When myopathy and myasthenia overlap

Cited by 40 publications

References 136 publications

Congenital myasthenic syndrome in China: genetic and myopathological characterization

Congenital myasthenic syndrome in China: genetic and myopathological characterization

Immune Checkpoint Inhibitor-Induced Myasthenia Gravis

Utility and practice of electrodiagnostic testing in the pediatric population: An AANEM consensus statement

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