The relative frequency of common neuromuscular diagnoses in a reference center

Cotta, Ana; Paim, Júlia Filardi; Carvalho, Elmano; da-Cunha-Júnior, Antonio Lopes; Navarro, Monica M.; Valicek, Jaquelin; Menezes, Miriam Melo; Nunes, Simone Vilela; Xavier‐Neto, Rafael; Baptista, Sidney; Lima, Luciano Romero; Takata, Reinaldo Issao; Vargas, Antônio Pedro

doi:10.1590/0004-282x20170151

Cited by 8 publications

(2 citation statements)

References 19 publications

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“…A limitation of using ES early is that it cannot detect molecular pathologies in congenital myotonic dystrophy type 1 (repeat expansion in the DMPK gene) and FSHD (contraction of D4Z4 repeats on chromosome 4q35). The 2 disorders are the most common hereditary myopathies after DMD in adult, accounting for 10–35% and 6–10% of hereditary myopathies, respectively 12 , 13 . This study excluded patients with clinically suspected FSHD without molecular confirmation.…”

Section: Discussionmentioning

confidence: 99%

Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum

Summa

Ittiwut

Kulsirichawaroj

et al. 2023

Sci Rep

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Muscular dystrophies and congenital myopathies are heterogeneous groups of inherited muscular disorders. An accurate diagnosis is challenging due to their complex clinical presentations and genetic heterogeneity. This study aimed to determine the utilisation of exome sequencing (ES) for Thai paediatric patients with muscular disorders. Of 176 paediatric patients suspected of genetic/inherited myopathies, 133 patients received a molecular diagnosis after performing conventional investigations, single gene testing, and gene panels. The remaining 43 patients from 42 families could be classified into three groups: Group 1, MLPA-negative Duchenne muscular dystrophy (DMD) with 9 patients (9/43; 21%), Group 2, other muscular dystrophies (MD) with 18 patients (18/43; 42%) and Group 3, congenital myopathies (CM) with 16 patients (16/43; 37%). All underwent exome sequencing which could identify pathogenic variants in 8/9 (89%), 14/18 (78%), and 8/16 (50%), for each Group, respectively. Overall, the diagnostic yield of ES was 70% (30/43) and 36 pathogenic/likely pathogenic variants in 14 genes were identified. 18 variants have never been previously reported. Molecular diagnoses provided by ES changed management in 22/30 (73%) of the patients. Our study demonstrates the clinical utility and implications of ES in inherited myopathies.

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Section: Discussionmentioning

confidence: 99%

Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum

Summa

Ittiwut

Kulsirichawaroj

et al. 2023

Sci Rep

View full text Add to dashboard Cite

show abstract

“…The 2 disorders are the most common hereditary myopathies after DMD in adult, accounting for 10-35% and 6-10% of hereditary myopathies, respectively. 12,13 This study excluded patients with clinically suspected FSHD without molecular con rmation. Although none of the patients in our cohort had phenotypes speci c to congenital myotonic dystrophy type I, infantile and childhood-onset congenital forms can be indistinguishable from other myopathies.…”

Section: Discussionmentioning

confidence: 99%

Utilisation of Exome Sequencing for Muscular Disorders in Thai Paediatric Patients: Diagnostic Yield and Mutational Spectrum

Summa¹,

Ittiwut

Kulsirichawaroj

et al. 2022

Preprint

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Muscular dystrophies and congenital myopathies are heterogeneous groups of inherited muscular disorders. An accurate diagnosis is challenging due to their complex clinical presentations and genetic heterogeneity. This study aimed to determine the utilization of whole exome sequencing (ES) for Thai paediatric patients with muscular disorders. Of 176 paediatric patients suspected of genetic/inherited myopathies, 133 patients received a molecular diagnosis after performing conventional investigations, single gene testing, and gene panels. The remaining 43 patients from 42 families could be classified into three groups: Group 1, MLPA-negative Duchenne muscular dystrophy (DMD) with 9 patients (9/43; 21%), Group 2, other muscular dystrophies (MD) with 18 patients (18/43; 42%) and Group 3, congenital myopathies (CM) with 16 patients (16/43; 37%). All underwent whole exome sequencing which could identify pathogenic variants in 8/9 (89%), 14/18 (78%), and 8/16 (50%), for each Group, respectively. Overall, the diagnostic yield of ES was 70% (30/43) and 36 pathogenic/likely pathogenic variants in 14 genes were identified. 18 variants have never been previously reported. Molecular diagnoses provided by ES changed management in 22/30 (73%) of the patients. Our study demonstrates the clinical utility and implications of ES in inherited myopathies.

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Genetic characterization of Limb Girdle Muscular Dystrophies and Pompe Disease in a large Argentine cohort

Schiava¹,

Marchesoni²,

Rosa³

et al. 2022

Neurology Perspectives

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The relative frequency of common neuromuscular diagnoses in a reference center

Cited by 8 publications

References 19 publications

Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum

Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum

Utilisation of Exome Sequencing for Muscular Disorders in Thai Paediatric Patients: Diagnostic Yield and Mutational Spectrum

Genetic characterization of Limb Girdle Muscular Dystrophies and Pompe Disease in a large Argentine cohort

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