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A Case Report of Juvenile Myasthenia Gravis; Misdiagnosis and Considerations [PDF]

Clinical Case Reports
Juvenile myasthenia gravis (JMG) is a rare autoimmune disease acquired in childhood, comprising 8%–15% of all myasthenia gravis cases depending on geographic and ethnic populations.
Elaheh Heidari, Amin Saeidinia
doaj   +2 more sources

Clinical characteristics and outcome predictors of a Chinese childhood-onset myasthenia gravis cohort

Frontiers in Pediatrics, 2022
Myasthenia gravis is an organ-specific autoimmune disease. Currently there is no universal guidelines for childhood-onset myasthenia gravis, therefore, treatment strategies are usually based on the guidelines from adult myasthenia gravis patients.
Lifen Yang, Yulin Tang, Fang He, Ciliu Zhang, Miriam Kessi, Jing Peng, Fei Yin   +6 more
doaj   +3 more sources

The Epidemiology and Phenotypes of Ocular Manifestations in Childhood and Juvenile Myasthenia Gravis: A Review

Frontiers in Neurology, 2022
Myasthenia gravis (MG) appears to have a similar incidence among adult populations worldwide. However, epidemiological and phenotypic differences have been noted among children and juveniles with MG.
Jeannine M. Heckmann, Jeannine M. Heckmann, Tarin A. Europa, Tarin A. Europa, Aayesha J. Soni, Melissa Nel   +5 more
doaj   +3 more sources

Pathophysiology of Childhood-Onset Myasthenia: Abnormalities of Neuromuscular Junction and Autoimmunity and Its Background

Pathophysiology, 2023
The pathophysiology of myasthenia gravis (MG) has been largely elucidated over the past half century, and treatment methods have advanced. However, the number of cases of childhood-onset MG is smaller than that of adult MG, and the treatment of childhood-
Masatoshi Hayashi
doaj   +3 more sources

TUBA4A Pathogenic Variant Manifesting With Adulthood-Onset Genetic Myasthenic Syndrome, Myopathy, and Infertility. [PDF]

Eur J Neurol
ABSTRACT Objectives TUBA4A pathogenic variants are associated with ALS, frontotemporal dementia, spastic ataxia, spasticity, ataxia, Parkinson's disease, female infertility, macrothrombocytopenia, and myopathy. Four recently reported patients with TUBA4A neonatal/childhood onset myopathy had also a decrement on repetitive nerve stimulation (RNS), but ...
Milone M, Nicolau S, Niu Z, Liewluck T, Sorenson EJ, Shen XM, Harper CM, Litchy WJ.   +7 more
europepmc   +2 more sources

Pragmatic Phenotype-Electrophysiology-Genomics Integration in Pediatric Congenital Myasthenic Syndromes: Insights From 36 Patients in a Single-Center Study in China. [PDF]

CNS Neurosci Ther
In 36 Chinese pediatric CMS patients, integrated phenotype, RNS, and genomic assessment revealed marked genetic heterogeneity across 17 CMS‐associated genes and frequent VUS‐related uncertainty. Genotype‐informed therapy improved MG‐ADL scores, while CHAT‐CMS identified a high‐risk subgroup for early respiratory failure and mortality.
Cui L, Ma K, Fu X, Ge L, Jia B, Ma W, Yang L, Liu Z, Lv J, Xu W, Wang L, Zhao G, Li J, Wu J, Wang Q, Ding C, Ren X, Shen X, Xiong H.   +18 more
europepmc   +2 more sources

Shared genetic and neuroimmune architecture links type 1 diabetes with neurocognitive traits [PDF]

Nature Communications
Type 1 diabetes, particularly with childhood onset, is associated with altered neurocognitive traits, yet the underlying biological mechanisms are unclear.
Priscilla Saarah, Zehra A. Syeda, Ziang Xu, Yikai Dong, Habei Jiang, Michelle Shanguhyia, Sourav Roy, Biqing Zhu, Le Zhang, Andrew T. Dewan, Samira Asgari, David A. Alagpulinsa   +11 more
doaj   +2 more sources

Practical Guidance on Initiating and Switching Targeted Immunotherapies in Generalised Myasthenia Gravis: A German-Austrian Expert Opinion Paper. [PDF]

Eur J Neurol
ABSTRACT Background The therapeutic landscape of generalised myasthenia gravis (gMG) has evolved substantially with the approval of targeted immunotherapies, including complement C5 inhibitors (C5‐I) and neonatal Fc receptor inhibitors (FcRn‐I). While pivotal trials have demonstrated marked efficacy in defined subgroups, real‐world experience reveals ...
Meisel A, Marina AD, Doksani P, Hagenacker T, Kleinschnitz C, Krämer HH, Lünemann JD, Meuth SG, Ruck T, Schara-Schmidt U, Schneider-Gold C, Schoser B, Schroeter M, Schubert C, Sieb JP, Zimprich F, Zschüntzsch J, Hoffmann S.   +17 more
europepmc   +2 more sources

A misdiagnosed myasthenia gravis with anti-muscle-specific tyrosine kinase antibodies with possible childhood onset [PDF]

Vojnosanitetski Pregled, 2015
Introduction. Childhood onset myasthenia gravis associated with anti-muscle-specific tyrosine kinase antibodies is very rare and atypical in presentation. Case report.
Nikolić Ana V., Lavrnić Dragana V., Basta Ivana Z., Nikolić Dimitrije M., Apostolski Slobodan A.   +4 more
doaj   +1 more source

A case report of Andersen-Tawil syndrome misdiagnosed with myodystrophy

Frontiers in Neurology, 2023
Andersen-Tawil syndrome (ATS) is a rare periodic paralysis caused by the KCNJ2 gene mutation. Here, we report on an ATS patient misdiagnosed with myodystrophy.
Xiuqin Zhao, Hengbing Zu, Kai Yao
doaj   +1 more source