Congenital myasthenic syndrome: Ten years clinical experience from a quaternary care south-Indian hospital

Wadwekar, Vaibhav; Nair, Sruthi S; Tandon, Vaibhav; Kuruvilla, Anju; Nair, Muralidharan

doi:10.1016/j.jocn.2019.11.030

Cited by 7 publications

(15 citation statements)

References 13 publications

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“…All patients, except one with the RAPSN variant, had infantile-onset CMS. Patient with RAPSN variant had onset at the age of 12 years, which is comparable to that reported in the study from Kerala (Wadwekar et al ., 2020). In the literature, including the present study, most patients had infantile and childhood-onset CMS, and none of the patients had onset after 20 years of age (Abicht et al ., 2012; Aharoni et al ., 2017; Selvam et al ., 2018; Wadwekar et al ., 2020).…”

Section: Discussionsupporting

confidence: 87%

“…Among Indian studies, a study of 18 genetically confirmed patients identified four genes namely, CHRNE (9/18 patients), COLQ (5/18 patients), GFPT1 (3/18 patients), and RAPSN (1/18 patients) (Selvam et al, 2018). Another study reported seven confirmed CMS patients and found clinically significant variants in three CMS genes: COLQ (4/7 patients), CHRNE (2/7 patients), and MUSK (1/7 patients) (Wadwekar et al, 2020). We found the pathogenic variant, c.955-2A>C in COLQ in two unrelated families, that is, 3 and 5 (Table 1).…”

Section: Discussionmentioning

confidence: 99%

“…In this study, we ascertained seven patients with CMS. Consanguinity and family history were observed in a significant number of patients in both the present and previous Indian studies (Supplementary Table S4, Supplemental digital content 1, http://links.lww.com/CD/A26) (Selvam et al ., 2018; Wadwekar et al ., 2020). All patients, except one with the RAPSN variant, had infantile-onset CMS.…”

Section: Discussionmentioning

confidence: 99%

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Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature

Mishra,

Nair,

Shukla

2023

Clinical Dysmorphology

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Congenital myasthenic syndromes (CMS) are rare, heterogeneous, and often treatable genetic disorders depending on the underlying molecular defect. We performed a detailed clinical evaluation of seven patients from five unrelated families. Exome sequencing was performed on five index patients. Clinically significant variants were identified in four CMS disease-causing genes: COLQ (3/7), CHRNE (2/7), DOK7 (1/7), and RAPSN (1/7). We identified two novel variants, c.930_933delCATG in DOK7 and c.1016_1032 + 2dup in CHRNE. A common pathogenic variant, c.955-2A>C, has been identified in COLQ-related CMS patients. Homozygosity mapping of this COLQ variant in patients from two unrelated families revealed that it was located in a common homozygous region of 3.2 Mb on chromosome 3 and was likely to be inherited from a common ancestor. Patients with COLQ variants had generalized muscle weakness, those with DOK7 and RAPSN variants had limb-girdle weakness, and those with CHRNE variants had predominant ocular weakness. Patients with COLQ and DOK7 variants showed improvement with salbutamol and CHRNE with pyridostigmine therapy. This study expands the mutational spectrum and adds a small but significant cohort of CMS patients from India. We also reviewed the literature to identify genetic subtypes of CMS in India.

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Section: Discussionsupporting

confidence: 87%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature

Mishra,

Nair,

Shukla

2023

Clinical Dysmorphology

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“…Table 3 highlights the summary of important characteristics noted among different Indian studies. 5,12,13 As can be seen from Table 3, the common genetic variants differ in these studies, but the numbers are small to draw an inference. Genetic analysis is confirmatory and important from the perspective of counseling and predicting the response to therapy.…”

Section: Discussionmentioning

confidence: 92%

“…A study in 2013 5 evaluated 15 cases of CMS while two recent studies from south India in 2018 9 and 2019 11 have studied 25 and 21 cases, respectively. Table 3 highlights the summary of important characteristics noted among different Indian studies 5,12,13 . As can be seen from Table 3, the common genetic variants differ in these studies, but the numbers are small to draw an inference.…”

Section: Discussionmentioning

confidence: 99%

Congenital myasthenic syndromes: A study of 15 cases

Khadilkar

Oza

Dhonde

et al. 2023

Neurology & Clinical Neurosc

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Background Congenital myasthenic syndromes (CMS) are rare inherited heterogeneous disorders of neuromuscular transmission. Aims and methodology This study aims to describe clinical and investigative characteristics including genetic aspects of patients with congenital myasthenic syndrome (CMS), in a cohort from western India. Retrospective analysis for the study period of 9 years (−January 2013 to December 2021) was performed. Patients were identified by predefined selection criteria using a combination of clinical, electrophysiological, and genetic studies. Results Fifteen genetically evaluated CMS patients, 11 females, and 4 males were identified. Ten patients had a history of fatigable ptosis at an early age, whereas all patients had varying degrees of proximal weakness at the time of presentation. The mean age at onset was 16 years and the mean age at final diagnosis was 22 years, thereby representing a mean delay in diagnosis of 6 years. Among the total 13 different genetic mutations identified, 4 are not previously reported. The most common genetic mutations identified were CHRNE gene (in 7 patients) followed by DOK7 gene (in 6 patients), and the remaining 2 patients had mutation in MUSK gene. Roma founder mutation (c.1327delG, p.E443ter) was seen in 5 patients with CHRNE gene. Four patients responded to pyridostigmine alone, 7 patients to salbutamol, whereas 4 patients required a combination of pyridostigmine and salbutamol. Conclusion This study, carried out in a small cohort of patients, highlights the frequent occurrence of Roma founder mutation in our population, and the predominance of CHRNE and DOK7 gene mutations, points of regional importance. Four novel variants were also identified in the genetic studies carried out.

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COLQ-mutation congenital myasthenic syndrome in late adolescence: Case report and review of the literature

Yin,

Cao,

Fan

et al. 2023

Heliyon

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Congenital myasthenic syndrome: Ten years clinical experience from a quaternary care south-Indian hospital

Cited by 7 publications

References 13 publications

Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature

Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature

Congenital myasthenic syndromes: A study of 15 cases

COLQ-mutation congenital myasthenic syndrome in late adolescence: Case report and review of the literature

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